← Về thư mục
📄 / / profiles / r-and-d / raw_evidence / OpenAI4S / skills / bioskills / bio-database-access-biomart-queries / SKILL.md

name: bio-biomart-queries description: Bulk-query Ensembl BioMart (and other BioMart instances) for cross-database ID mapping, gene/transcript/exon coordinates, and ortholog tables. Use when batch-converting Ensembl IDs to other namespaces (HGNC, RefSeq, UniProt, Entrez), pulling gene coordinate tables for thousands of genes, building ortholog wide-tables across species, or replacing slow Ensembl REST loops with one-shot bulk export. Encodes BioMart's XML query format, R biomaRt vs Python pybiomart trade-off, mart-vs-dataset hierarchy, and the URL endpoint that's BioMart-specific (separate from rest.ensembl.org). origin: openai4s category: bioskills/database-access metadata: tool_type: mixed primary_tool: pybiomart third_party: name: GPTomics/bioSkills repository: https://github.com/GPTomics/bioSkills commit: d91ed3d563019e649dc854c56ccd62551359488a license: MIT


Version Compatibility

Reference examples tested with: pybiomart 0.9+, R biomaRt 2.58+ (Bioconductor); Ensembl BioMart (release 110+)

Before using code patterns, verify installed versions match. If versions differ: - Python: pip show pybiomart - R: packageVersion('biomaRt')

The BioMart XML query format is stable across Ensembl releases; the underlying mart names and attribute IDs can change between Ensembl releases. For published work, pin the Ensembl release via useEnsembl(version=110).

BioMart Queries

"Bulk-convert IDs / pull coordinate tables / extract ortholog wide tables" -> BioMart is the right answer for any Ensembl-rooted query producing >5,000 rows. It is a separate service from the Ensembl REST API, with separate rate behavior and a different query model (XML-based, batch-oriented). For one-off lookups (<100 records), Ensembl REST is more convenient; for bulk anything, BioMart wins.

The single most important fact: BioMart returns a flat table from a single query. There is no per-record loop, no rate-limit cascade, no async polling. One XML query in; one TSV out.

Installation

pip install pybiomart pandas
# R:
# BiocManager::install('biomaRt')

BioMart hierarchy

Level Examples
Mart ENSEMBL_MART_ENSEMBL (genes), ENSEMBL_MART_SNP (variants), ENSEMBL_MART_MOUSE (mouse-specific)
Dataset hsapiens_gene_ensembl, mmusculus_gene_ensembl, etc. (per species)
Attribute Fields to return: ensembl_gene_id, external_gene_name, chromosome_name, etc.
Filter Constraints on the query: chromosome_name = 17, biotype = protein_coding, etc.

A query is: pick a mart, pick a dataset, list attributes to return, list filters to constrain. BioMart returns a single TSV.

Discovery:

from pybiomart import Server
server = Server(host='http://www.ensembl.org')
print(server.marts)                                          # list marts
mart = server['ENSEMBL_MART_ENSEMBL']
print(mart.datasets)                                         # list datasets (species)
ds = mart['hsapiens_gene_ensembl']
print(ds.attributes)                                         # list attributes
print(ds.filters)                                            # list filters

Decision matrix: BioMart vs Ensembl REST

Question BioMart Ensembl REST
Bulk ID mapping (>5000 IDs) yes (1 query) rate-limited cascade
Single-gene lookup overkill yes
Coordinate tables for thousands of genes yes rate-limited
Ortholog wide-table across species yes (multi-species mart) per-gene loop
VEP variant annotation no yes (or local VEP)
Sequence retrieval partial yes
Real-time no (batch) yes (per-record)
Reproducibility (version pin) useEnsembl(version=110) archive URL e110.rest.ensembl.org

For >5K rows, BioMart is the right tool. For real-time per-record lookups, REST.

Common attribute selectors

Attribute Returns
ensembl_gene_id Stable Ensembl Gene ID
ensembl_gene_id_version With .N version suffix
external_gene_name HGNC symbol (or species-equivalent)
hgnc_id, hgnc_symbol HGNC permanent ID and symbol
entrezgene_id NCBI Gene ID
refseq_mrna, refseq_peptide RefSeq accessions
uniprotswissprot, uniprotsptrembl UniProt accessions
chromosome_name, start_position, end_position, strand Gene coordinates
transcript_count, exon_count Counts
biotype protein_coding, lncRNA, miRNA, etc.
description Free-text gene description
go_id, name_1006, namespace_1003 GO term ID, name, namespace

Common filter selectors

Filter Constraint
ensembl_gene_id List of Gene IDs
external_gene_name List of symbols
entrezgene_id List of NCBI Gene IDs
chromosome_name One or more chromosomes
start / end Coordinate range
biotype One or more biotypes
with_<source> Boolean: has cross-ref to <source> (e.g. with_hpa = has Human Protein Atlas)

Code patterns

Bulk ID mapping: Ensembl Gene -> HGNC + RefSeq + UniProt

Goal: Convert 5,000 Ensembl Gene IDs to HGNC symbols, RefSeq mRNA accessions, and UniProt accessions in one query.

Approach: pybiomart query with three attributes; ID list as a filter; returns one TSV.

Reference (pybiomart 0.9+, Ensembl release 110+):

from pybiomart import Server
import pandas as pd

server = Server(host='http://www.ensembl.org')
mart = server['ENSEMBL_MART_ENSEMBL']
ds = mart['hsapiens_gene_ensembl']

ensembl_ids = ['ENSG00000139618', 'ENSG00000141510', 'ENSG00000171862']  # ...up to 5K+

df = ds.query(
    attributes=['ensembl_gene_id', 'external_gene_name', 'hgnc_id',
                'refseq_mrna', 'uniprotswissprot'],
    filters={'ensembl_gene_id': ensembl_ids},
)
print(df.head())
# One row per (gene, cross-ref) pair; genes with multiple RefSeq mRNAs get multiple rows.

Pull gene coordinate table for a chromosome

df = ds.query(
    attributes=['ensembl_gene_id', 'external_gene_name', 'chromosome_name',
                'start_position', 'end_position', 'strand', 'biotype'],
    filters={'chromosome_name': '17', 'biotype': 'protein_coding'},
)
print(f'{len(df)} protein-coding genes on chr17')

Bulk ortholog wide-table (human <-> mouse <-> zebrafish)

Goal: One TSV with human Ensembl ID, mouse ortholog Ensembl ID, zebrafish ortholog Ensembl ID per row.

Approach: Ortholog attributes from the human mart query both species' orthologs.

df = ds.query(
    attributes=['ensembl_gene_id', 'external_gene_name',
                'mmusculus_homolog_ensembl_gene', 'mmusculus_homolog_orthology_type',
                'drerio_homolog_ensembl_gene', 'drerio_homolog_orthology_type'],
    filters={'chromosome_name': '17'},
)
# pybiomart columns use the mart display names, which can vary across releases.
# Resolve column names defensively rather than hardcoding strings:
mouse_type_col = next(c for c in df.columns if 'Mouse' in c and 'type' in c)
zebra_type_col = next(c for c in df.columns if 'Zebrafish' in c and 'type' in c)
df_one2one = df[(df[mouse_type_col] == 'ortholog_one2one') &
                (df[zebra_type_col] == 'ortholog_one2one')]
print(f'{len(df_one2one)} 1:1 orthologs across all three species on chr17')

GO term annotation for a gene set

df = ds.query(
    attributes=['ensembl_gene_id', 'external_gene_name',
                'go_id', 'name_1006', 'namespace_1003'],
    filters={'external_gene_name': ['TP53', 'BRCA1', 'MYC', 'EGFR']},
)
# Long format: one row per (gene, GO term) pair

Version-pinned query (R biomaRt)

# Reference: Bioconductor biomaRt 2.58+ | Verify API if version differs
library(biomaRt)

# Pin to release 110 for reproducibility
ensembl <- useEnsembl(biomart='genes', dataset='hsapiens_gene_ensembl', version=110)

# Or via host URL (for older or specific assemblies)
# ensembl <- useMart('ENSEMBL_MART_ENSEMBL',
#                     dataset='hsapiens_gene_ensembl',
#                     host='https://nov2020.archive.ensembl.org')

df <- getBM(
    attributes = c('ensembl_gene_id', 'external_gene_name', 'entrezgene_id',
                   'uniprotswissprot', 'refseq_mrna'),
    filters = 'ensembl_gene_id',
    values = c('ENSG00000139618', 'ENSG00000141510'),
    mart = ensembl
)
head(df)

Discover attributes / filters programmatically

# What attributes are available?
attrs = ds.attributes
ortho_attrs = [a for a in attrs if 'homolog' in a]
print(f'{len(ortho_attrs)} ortholog attributes; first 5: {ortho_attrs[:5]}')

# What filters?
filts = ds.filters
chrom_filts = [f for f in filts if 'chrom' in f]

Failure modes

Trying to pull >100K rows in one query

No version pinning

Multiple cross-refs balloon row count

Symbol-based filter misses HGNC renames

Multi-species mart query slow

REST loops where BioMart belongs

Wrong mart for the question

Common errors

Error / symptom Cause Solution
Empty result Wrong attribute / filter name List with ds.attributes and ds.filters
Timeout on big query No filter, too many rows Chunk by chromosome
Drift between re-runs No version pinning useEnsembl(version=110)
Row count > expected Many-to-many cross-ref joins Filter to canonical isoform
Symbol filter returns nothing HGNC rename Filter by Ensembl ID or HGNC ID
Slow on ortholog wide-table Multi-species join expensive Chunk by chromosome

References