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Folklore Variant Evidence

Look up public ClinGen gene-disease and variant evidence via a hosted MCP endpoint

Source Download skill
Repository
K-Dense-AI/scientific-agent-skills
Stars
55,780
Licence
MIT
Files
2 files

What it does

Once installed, the agent can query a hosted public clinical-genetics service (Folklore, by Helena Bioinformatics) for one GRCh38 germline variant or a gene/disease, and return structured results: whether the variant was resolved, ambiguous, or not found, ClinGen gene-disease validity assertions, and source-linked public literature. It is instructed to keep each explicit outcome status, cite sources, and refuse patient-specific or private case information.

Great for

  • Researchers or bioinformaticians who want sourced public variant and gene-disease evidence in one structured call
  • Developers building agents that must branch deterministically on resolved, ambiguous, not-found or unavailable outcomes
  • Anyone who needs provenance (source version and snapshot hash) for ClinGen assertions

Skip it if

  • Patient-specific or clinical diagnosis: the skill explicitly does not accept phenotypes, family history, segregation or case data, and its output is decision support for professional review only
  • Batch processing, VCF annotation, somatic or structural variants, or polygenic scores: the skill says these are out of scope
  • Anyone expecting complete coverage: ClinGen data is a bounded local snapshot, and a not_found result does not mean no association exists

Try asking

  • “Look up the public variant rs80357914 on GRCh38 and report its resolution status and evidence”
  • “List ClinGen gene-disease validity assertions for the gene BRCA1 with source version and date”
  • “Find publications linked to a resolved variant and return publication details”
  • “Search ClinGen disease-to-gene assertions for a disease name, following pagination”
Step-by-step guide: how to use Folklore Variant EvidenceInstall, first run, examples, tips and FAQs

Install in 3 steps

  1. 1

    Download the skill

    The ZIP contains the 2 original files, the MIT licence and an attribution note.

    folklore-variant-evidence.zip
  2. 2

    Add it to your agent

    Claude Code (all projects)

    mkdir -p ~/.claude/skills && unzip folklore-variant-evidence.zip -d ~/.claude/skills/

    Claude Code / Agent SDK (this project only)

    mkdir -p .claude/skills && unzip folklore-variant-evidence.zip -d .claude/skills/

    Claude apps (web/desktop): Settings → Capabilities → Skills → Upload skill, and choose the ZIP.

  3. 3

    Ask for the task

    No special command needed — the agent reads the skill's description and loads it when your request matches. Try one of the prompts above.

Get better results

  • Give one public identifier at a time (rsID, HGVS, SPDI or genomic coordinates) and state GRCh38; if the result is ambiguous, supply a more specific notation rather than letting the agent pick a candidate
  • Keep patient names, phenotypes and family details out of prompts entirely; the skill is designed to refuse them but you should not send them
  • Ask for the source version and snapshot hash when you need to cite ClinGen data, and check whether results were paginated

What's inside

  • references/mcp-contract.md
  • SKILL.md

Redistributed unmodified from K-Dense-AI/scientific-agent-skills under the MIT licence. The assessment was drafted with AI from the skill's files on 2026-10-29. Skills can instruct your agent to run code — read SKILL.md and any scripts before installing.