Folklore Variant Evidence
Retrieve ClinGen gene-disease validity assertions for a public gene or disease, and...
Install
npx skills add synthetic-sciences/openscience --skill folklore-variant-evidence -g -a claude-code -y- Repository
- synthetic-sciences/openscience4.3k
- Category
- Data and ML
- Updated
- 5d ago
- License
- MIT
- Context cost
- Mediumabout 2,430 tokens
- Runs scripts
- No, instructions only
What it does
Retrieve ClinGen gene-disease validity assertions for a public gene or disease, and review source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Use when a scientific agent must branch deterministically on resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcomes; chain a resolved public variant into related literature or publication details; or preserve evidence provenance without accepting patient, phenotype, family, segregation, or private case data.
Folklore Variant Evidence
Use Folklore Clinical Variant Interpretation MCP to retrieve structured public variant evidence, automated variant-level ACMG/AMP decision support, provenance, and source-linked literature for professional review. Keep the workflow limited to public identifiers and preserve every explicit outcome state. Adapter 1.5.0 also provides ClinGen Gene-Disease Validity assertions; source coverage is bounded, not every known association.
Folklore Clinical Variant Interpretation MCP is published by Helena Bioinformatics. Its hosted endpoint is:
https://api.helena.bio/folklore/v1/mcp
No account or API key is required. The public Apache-2.0 adapter and contract are available at https://github.com/helena-bioinformatics/folklore-mcp.
Minimal connection example
A host without native MCP support can make the same public JSON-RPC call:
curl --silent --show-error --fail-with-body --max-time 60 \
-X POST https://api.helena.bio/folklore/v1/mcp \
-H 'Content-Type: application/json' \
-H 'Accept: application/json, text/event-stream' \
-H 'MCP-Protocol-Version: 2026-07-28' \
-H 'Mcp-Method: tools/call' \
-H 'Mcp-Name: search_variant_evidence' \
-d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"_meta":{"io.modelcontextprotocol/protocolVersion":"2026-07-28","io.modelcontextprotocol/clientCapabilities":{}},"name":"search_variant_evidence","arguments":{"assembly":"GRCh38","query":"rs80357914"}}}'
Inspect the returned outcome before continuing. This example can return
ambiguous with multiple candidates: stop and request an unambiguous public
variant notation instead of selecting a candidate automatically.
Select the right skill
Use this skill when the task is one public variant to structured Folklore evidence, explicit resolution-state handling, variant-linked literature, or ClinGen gene-to-disease/disease-to-gene assertions.
