← Về thư mục
📄 / / profiles / r-and-d / raw_evidence / scientific-agent-skills / skills / alphagenome / references / atlas.md

AlphaGenome Atlas: data model, scorers, AVI, and access

Verified against alphagenome 0.9.0 (released 2026-09-08, the first version with alphagenome.atlas), the Atlas technical report (Cheng, Taylor, Nicolaisen, Pan, Bycroft, Perino, Ward, et al., "AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants", 2026 preprint), and DeepMind's own Atlas agent skills in google-deepmind/science-skills. Anything marked unverified could not be checked without an API key.

What is in the Atlas

Item Value
Genome build GRCh38 / hg38 only. Gene annotations: GENCODE v46.
Variants Every possible SNV at every non-N reference base (about 9 billion). Over 100 million observed indels (gnomAD v4.1, UK Biobank, All of Us) were scored for the paper, but the public API is currently limited to SNVs; indel expansion is promised "upon final publication".
Model The distilled AlphaGenome model, 1 Mb input centred on a 128 bp scoring window (so a variant sits within 64 bp of the centre; the paper shows this does not change scores).
Per-variant content Raw scores for every track of 19 recommended scorer configurations (about 27,000 scalars per variant, about 15,000 without the _ACTIVE scorers), the AVI score with its quantile, 18 SHAP feature attributions, and motif instances.
Motifs 2,601 motifs (94 main TF labels, 122 zinc-finger labels, 464 composite patterns) and about 253 billion motif instances. Browsable on the portal; bulk download promised.
Size About 1 PB.

Index key semantics

Each record is keyed by chromosome:position:alt on GRCh38. The REF allele is implied by the reference and is not part of the key, so:

Check REF against the reference FASTA before trusting any Atlas result (genomic-coordinates has normalize_variant.py and check_contigs.py).

The scorers (Table S1 of the report)

requested_scorers= takes these names. Track counts are for human; the _ACTIVE names are the natural spelling of the "(Active)" rows but were not verified against a live scorer_metadata() call.

Name Scorer class Parameters Biosamples Tracks Signed Obs axis
ATAC CenterMaskScorer width 501, DIFF_LOG2_SUM 167 167 yes variant
DNASE CenterMaskScorer width 501, DIFF_LOG2_SUM 305 305 yes variant
CHIP_TF CenterMaskScorer width 501, DIFF_LOG2_SUM 163 1,617 yes variant
CHIP_HISTONE CenterMaskScorer width 2001, DIFF_LOG2_SUM 219 1,116 yes variant
CAGE CenterMaskScorer width 501, DIFF_LOG2_SUM 264 546 yes variant
PROCAP CenterMaskScorer width 501, DIFF_LOG2_SUM 6 12 yes variant
RNA_SEQ GeneMaskLFCScorer log fold change over exons 285 371 yes variant x gene
POLYADENYLATION PolyadenylationScorer max log-fold change of isoform ratio 285 371 no variant x gene
SPLICE_SITES GeneMaskSplicingScorer SPLICE_SITES, width None - 2 (donor, acceptor) no variant x gene
SPLICE_SITE_USAGE GeneMaskSplicingScorer SPLICE_SITE_USAGE, width None 282 367 no variant x gene
SPLICE_JUNCTIONS SpliceJunctionScorer 282 367 no variant x junction
CONTACT_MAPS ContactMapScorer 12 28 no variant
*_ACTIVE (ATAC, DNASE, CHIP_TF, CHIP_HISTONE, CAGE, PROCAP, RNA_SEQ) same widths, ACTIVE_SUM / GeneMaskActiveScorer absolute activity of the stronger allele, not a difference as above as above no as above
AVI_SCORE composite one score per variant - 1 no variant
AVI_SCORE_FEATURE_IMPORTANCE SHAP 18 attribution values - 18 yes variant

"Signed" scorers can go negative (ALT lowers the signal). For unsigned scorers the direction is not meaningful; only magnitude ranks.

The whole catalogue is 9,440 tracks. python scripts/atlas_query.py tracks --scorer RNA_SEQ --query liver shows the metadata for any of them.

AlphaGenome Variant Impact (AVI)

AVI is a small neural network trained on proxy labels: gnomAD v4.1 variants with a group-maximum filtering allele frequency above 0.001 are "proxy benign" (about 2e7), below 0.001 "proxy impactful" (about 1e8). It therefore learns to rank variants by how strongly negative selection appears to act on them, using 18 features:

Group Features (var['name'] keys)
AlphaGenome, max absolute effect across all tracks and genes MAX_ABS_ATAC, MAX_ABS_DNASE, MAX_ABS_CHIP_TF, MAX_ABS_CHIP_HISTONE, MAX_ABS_CAGE, MAX_ABS_PROCAP, MAX_ABS_RNA_SEQ, MAX_ABS_POLYADENYLATION, MAX_ABS_CONTACT_MAPS
AlphaGenome splicing (sites + usage + junctions/5, each max over genes) MERGED_SPLICING
Protein ALPHAMISSENSE (0 when there is no AlphaMissense prediction)
Conservation CACTUS_241_WAY (Zoonomia phyloP, range -20 to 8.9), PHASTCONS_470_WAY
VEP loss-of-function indicators PROTEIN_TERMINATION (stop gained or frameshift), START_LOST, STOP_LOST
Indel type IS_INSERTION, IS_DELETION

The 18 SHAP values (expected-gradients approximation, reference = all features zero) sum to the raw AVI score, so the attribution tells you which modality drives a high score: splicing, a TF-binding change, conservation alone, or a coding consequence via AlphaMissense.

Raw, quantile, Phred

The Atlas returns the raw score in X and a cumulative quantile against all genome-wide SNVs in layers['quantiles']. Convert as DeepMind's tools do:

tail  = 1 - cdf_quantile            # fraction of SNVs scoring at least this high
phred = -10 * log10(tail)           # 10 = top 10 %, 20 = top 1 %, 30 = top 0.1 %, 40 = top 0.01 %
top % = 10 ** (-phred / 10) * 100

Indel Phred scores are placed on the SNV quantile curve. The report's guidance: AVI is applicable to coding and non-coding variants, but use region- or application-aware thresholds and prefer ranking over hard cut-offs. Pathogenic regulatory variants land in lower AVI bins than pathogenic protein-truncating or splice-motif variants, so one genome-wide cut-off under-calls regulatory hits.

Benchmarks and case studies (report, for context only)

State-of-the-art on ClinVar non-coding, saturation genome editing, and TraitGym style benchmarks against CADD, GPN-Star, and AlphaMissense after removing training-set overlap; resolution of an epileptic-encephalopathy case in the GREGoR cohort via a DNM1 variant missed by prior tools; a 22 % increase in detectable rare non-coding associations for circulating proteins in UK Biobank.

Client API (alphagenome.atlas.atlas)

from alphagenome.atlas import atlas
from alphagenome.data import genome

client = atlas.create(api_key, timeout=30)          # gRPC to gdmscience.googleapis.com:443

client.scorer_metadata()   # -> {name: ScorerMetadata(name, is_signed, track_metadata: DataFrame)}

client.query_variant(
    genome.Variant.from_str("chr22:36201698:A>C"),  # 1-based position
    requested_scorers=["AVI_SCORE", "AVI_SCORE_FEATURE_IMPORTANCE", "RNA_SEQ"],
    ontology_terms=None,      # e.g. ["UBERON:0001157", "CL:0000084"]; strings or OntologyTerm
    gene_ids=None,            # Ensembl IDs, gene-centric scorers only
    gene_names=None,          # symbols, gene-centric scorers only
)                              # -> {scorer_name: AnnData}

client.query_variants([...], requested_scorers=[...], progress_bar=True, max_workers=10)
client.query_interval(genome.Interval("chr11", 5225726, 5226575), requested_scorers=[...])

Errors

atlas.handle_rpc_error maps gRPC status to Python exceptions:

gRPC status Python Typical cause
INVALID_ARGUMENT, NOT_FOUND ValueError bad key ("API key not valid"), unknown scorer name, variant not in the Atlas (indel, N base, wrong REF)
UNAUTHENTICATED, PERMISSION_DENIED PermissionError key without Atlas access, terms not accepted
DEADLINE_EXCEEDED TimeoutError 60 s per-call timeout
OUT_OF_RANGE IndexError interval past the contig end
RESOURCE_EXHAUSTED, UNAVAILABLE retried by the channel: 5 attempts, exponential back-off 1 s to 60 s quota or transient outage

An invalid key surfaces as ValueError, not PermissionError (checked live with a dummy key on 2026-09-13).

Access tiers and terms

From the report's Data Availability section and the AlphaGenome terms:

Data Access Route
AVI scores, all hg38 SNVs permissive licence, commercial use allowed static download (Tabix) at https://alphagenome.google/downloads
AVI scores non-commercial API (AVI_SCORE)
AVI feature attributions non-commercial static download (Tabix) and API (AVI_SCORE_FEATURE_IMPORTANCE)
Splicing scores non-commercial static download (Tabix) and API
All other raw Atlas track scores non-commercial API only
Motif compendium and instances browse on the portal; bulk download promised portal
Commercial API access "coming soon" via Google Cloud Model Garden -

Model and Atlas outputs are for research and theoretical modelling, may not be used to train other machine-learning models, and are not for diagnostic procedures or medical decision-making. The website is free for non-commercial use. Query rates are demand-dependent and unpublished; the docs say the Atlas "will typically have a larger query rate" than on-demand model predictions.

The portal

https://deepmind.google.com/science/alphagenome/atlas (also reachable as https://alphagenome.google/atlas). Query parameters, from DeepMind's link builder:

Parameter Meaning
q variant chr:pos:ref>alt (1-based), interval chr:start-end (1-based closed), gene symbol, or Ensembl gene ID. rsIDs are not accepted.
m view: variant, locus, entity (gene), motifs
i viewport interval, needed before motif instances render
f filters: BIOSAMPLE_NAME:K562, BIOSAMPLE_TYPE:... (AND), SCORER_MODALITY:RNA-seq, ASSAY_TRANSCRIPTOR_FACTOR:GATA1, ASSAY_HISTONE_MARK:H3K27ac (OR within the assay group), GENE_NAME:HBB
lItems layout: avi, section:RNA_SEQ, section:DNASE, section:CHIP_TF, ..., pinned:<track key>
scores, md, tpRenames, tpLegendTitle the /atlas/track-predictions REF-vs-ALT comparison page

Because RNA-seq and DNase tracks carry no TF code, a filter made only of TF predicates hides them; add SCORER_MODALITY:RNA-seq,SCORER_MODALITY:DNase alongside (scripts/atlas_link.py does this automatically).

Bulk files and annotations

Citing

Cite both the Atlas report (above) and the model paper: Avsec Ž. et al., "Advancing regulatory variant effect prediction with AlphaGenome", Nature 649, 1206-1218 (2026), doi:10.1038/s41586-025-10014-0. Software: https://github.com/google-deepmind/alphagenome (Apache-2.0 client; the model weights and outputs carry separate terms).