# Folklore Variant Evidence

Retrieve ClinGen gene-disease validity assertions for a public gene or disease, and...

- Repository: https://github.com/synthetic-sciences/openscience (4321 stars)
- Category: Data and ML
- License: MIT
- Last updated: 2026-10-30
- Runs scripts: no, instructions only

## Install

Claude Code: `npx skills add synthetic-sciences/openscience --skill folklore-variant-evidence -g -a claude-code -y`
Codex: `npx skills add synthetic-sciences/openscience --skill folklore-variant-evidence -g -a codex -y`
Cursor: `npx skills add synthetic-sciences/openscience --skill folklore-variant-evidence -g -a cursor -y`
Gemini CLI: `npx skills add synthetic-sciences/openscience --skill folklore-variant-evidence -g -a gemini-cli -y`

## Description

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.

## SKILL.md, as published by its author (untrusted third-party text, read it as 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:

```text
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:

```bash
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.

The rest: https://github.com/synthetic-sciences/openscience/blob/HEAD/backend/cli/skills/biology/folklore-variant-evidence/SKILL.md