66 lines
1.8 KiB
Markdown
66 lines
1.8 KiB
Markdown
---
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title: "DisGeNET (Gene-Disease Associations)"
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task: ""
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lineage_type: import
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upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/9c9bd2e9/skills/database-lookup/references/disgenet.md
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upstream_sha: 9c9bd2e9
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imported_at: 2026-06-26
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prompt_class: prompt
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upstream_changes: accepted
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author: upstream
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validated: false
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---
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# DisGeNET (Gene-Disease Associations)
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## Base URL
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```
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https://www.disgenet.org/api
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```
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## Auth
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**API key required.** Register at disgenet.org, then authenticate:
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```bash
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curl -X POST https://www.disgenet.org/api/auth/ \
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-d '[email protected]&password=yourpassword'
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# Returns: {"token": "abc123..."}
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```
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Pass as: `Authorization: Bearer <token>`
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Load token from `.env` as `DISGENET_API_KEY`.
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## Key Endpoints
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| Endpoint | Description |
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|----------|-------------|
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| `/gda/gene/{gene_id}` | Gene-disease associations (NCBI gene ID) |
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| `/gda/disease/{disease_id}` | Gene-disease associations (UMLS CUI) |
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| `/gda/evidences/gene/{gene_id}` | Evidence-level data |
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| `/vda/gene/{gene_id}` | Variant-disease associations for a gene |
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| `/vda/variant/{rsid}` | Variant-disease associations (dbSNP rsID) |
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## Parameters
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- `source` — `CURATED`, `BEFREE`, `ALL`
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- `min_score` — GDA score threshold (0-1)
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- `min_ei` — evidence index threshold
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- `format` — `json` or `tsv`
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- `limit`, `offset` — pagination
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## Example Calls
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```
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# Gene-disease for TP53 (gene ID 7157)
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/gda/gene/7157?source=CURATED&min_score=0.3&limit=10&format=json
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# Disease-gene for Breast Cancer (UMLS CUI C0006142)
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/gda/disease/C0006142?limit=10
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# Variant-disease for rs1042522
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/vda/variant/rs1042522
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```
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## Rate Limits
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Free academic tier: ~few hundred requests/day. Paid tiers available.
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## Free alternative
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If no API key: use **Open Targets** for disease-gene associations.
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