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DisGeNET (Gene-Disease Associations)

Load token from `.env` as `DISGENET_API_KEY`.

Claude Code Knowledge Pack7/10/2026

Overview

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

EndpointDescription
/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

  • source — CURATED, BEFREE, ALL
  • min_score — GDA score threshold (0-1)
  • min_ei — evidence index threshold
  • format — json or tsv
  • limit, offset — pagination

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.