← Về thư mục
📄 / / profiles / r-and-d / raw_evidence / scientific-agent-skills / skills / database-lookup / references / disgenet.md

DisGeNET (Gene-Disease Associations)

Base URL

https://www.disgenet.org/api

Auth

API key required. Register at disgenet.org, then authenticate:

curl -X POST https://www.disgenet.org/api/auth/ \
  -d 'email=you@example.com&password=yourpassword'
# Returns: {"token": "abc123..."}

Pass as: Authorization: Bearer <token>

Load token from .env as DISGENET_API_KEY.

Key Endpoints

Endpoint Description
/gda/gene/{gene_id} Gene-disease associations (NCBI gene ID)
/gda/disease/{disease_id} Gene-disease associations (UMLS CUI)
/gda/evidences/gene/{gene_id} Evidence-level data
/vda/gene/{gene_id} Variant-disease associations for a gene
/vda/variant/{rsid} Variant-disease associations (dbSNP rsID)

Parameters

Example Calls

# Gene-disease for TP53 (gene ID 7157)
/gda/gene/7157?source=CURATED&min_score=0.3&limit=10&format=json

# Disease-gene for Breast Cancer (UMLS CUI C0006142)
/gda/disease/C0006142?limit=10

# Variant-disease for rs1042522
/vda/variant/rs1042522

Rate Limits

Free academic tier: ~few hundred requests/day. Paid tiers available.

Free alternative

If no API key: use Open Targets for disease-gene associations.