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folklore-variant-evidence

Retrieve ClinGen gene-disease assertions and source-linked evidence for public GRCh38 germline variants via Folklore MCP.

46.6k|4.2k|Updated Oct 19, 2025
Search Tags:#mcp#genomics#literature search#variant interpretation#acmg#clingen#grch38
One-click install
npx skills add https://github.com/K-Dense-AI/claude-scientific-skills --skill folklore-variant-evidence-k-dense-ai
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: folklore-variant-evidence
Source: https://github.com/K-Dense-AI/claude-scientific-skills/tree/main/skills/folklore-variant-evidence
Command: npx skills add https://github.com/K-Dense-AI/claude-scientific-skills --skill folklore-variant-evidence-k-dense-ai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve? Scientific agents need structured, provenance-preserving public variant evidence and ClinGen gene-disease validity assertions without handling patient data, plus deterministic handling of ambiguous, not-found, or unavailable variant resolution outcomes. ## Core Features & Use Cases - Variant Evidence Retrieval: Query one public GRCh38 germline SNV or simple indel (HGVS, SPDI, rsID, coordinates) and receive structured ACMG/AMP decision support with source links and provenance. - Explicit Outcome Branching: Branch deterministically on six resolution states (resolved, ambiguous, not_found, invalid_request, unsupported, resolution_unavailable) without collapsing or auto-selecting candidates. - Literature Chaining: Chain a resolved canonical_key into variant-linked literature, publication details by PMID, and semantic corpus search with match-type distinctions. - Use Case: An agent receives rs80357914, calls search_variant_evidence, gets an ambiguous result, lists candidates, and stops for explicit user selection instead of guessing. ## Quick Start Ask the agent to retrieve public variant evidence for a GRCh38 germline variant such as rs80357914 using the Folklore MCP endpoint and report the returned status and sources.

Frequently Asked Questions about folklore-variant-evidence

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I retrieve clinical variant evidence for an rsID or HGVS notation?▼

Call search_variant_evidence on the Folklore MCP endpoint with assembly GRCh38 and one public variant query such as an rsID, HGVS, SPDI, or genomic coordinate. Inspect the returned status before proceeding; only resolved results may chain into literature tools.

What variant types does Folklore Clinical Variant Interpretation MCP support?▼

It supports one public GRCh38 germline nuclear SNV or simple indel per call. It does not handle VCF annotation, batch processing, somatic variants, structural variants, polygenic scores, or patient-specific interpretation.

Does the Folklore MCP endpoint require an API key or account?▼

No credentials are required. The hosted endpoint at api.helena.bio uses stateless Streamable HTTP MCP, and hosts without native MCP support can make equivalent JSON-RPC POST calls with curl.

What should an agent do when variant resolution returns ambiguous?▼

Show the returned candidates and ask the user for an explicit public variant selection. Never select a candidate automatically or convert ambiguous into resolved, and do not call downstream literature tools.

Can I include patient phenotypes or family history in a variant query?▼

No. The service accepts only public variant identifiers and refuses patient, phenotype, family, segregation, or private case data. Results are variant-level decision support for qualified professional review, not diagnoses.

How do I get ClinGen gene-disease validity assertions for a gene?▼

Call get_gene_disease_associations with an exact gene symbol or HGNC identifier, or search_disease_genes with a MONDO identifier or disease-name substring. Empty results mean no matching assertion in the available ClinGen source, not no association.

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