/folklore-variant-evidence

name: folklore-variant-evidence
description: "Retrieves ClinGen gene-disease validity assertions for a public gene or disease, and reviews source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Used 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."
license: MIT
compatibility: Requires network access to api.helena.bio (stateless Streamable HTTP MCP, no credentials) and a host supporting its advertised protocol, or curl for direct JSON-RPC POST requests.
metadata:
  version: "1.2"
  last-reviewed: "2026-09-30"
  skill-author: "Helena Bioinformatics"
  website: "https://folklore.helena.bio"
  github: "https://github.com/helena-bioinformatics/folklore-mcp"

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"}}}'

The routing headers must match the JSON-RPC method and tool name. A successful HTTP response is not sufficient: inspect JSON-RPC `error`, then `result.structuredContent.adapter_error`, then this tool's `result.structuredContent.result.status`. Other tools use different response shapes; use the [contract table](references/mcp-contract.md).

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.

• Use `database-lookup` for broad direct queries across ClinVar, dbSNP, gnomAD,

Ensembl VEP, COSMIC, or multiple databases.

• Use `genomic-coordinates` first when the assembly, coordinate convention,

contig name, or variant representation is uncertain.

• Do not use this skill for VCF annotation, batch processing, somatic variants,

structural variants, polygenic scores, or patient-specific interpretation.

Folklore Clinical Variant Interpretation MCP complements those skills with one source-linked public evidence contract. It does not replace direct database review or qualified clinical judgment.

Enforce the input boundary

Before a variant tool call:

1. Extract exactly one public variant identifier or notation. 2. Require GRCh38 and a germline nuclear SNV or simple insertion/deletion shorter than 50 base pairs. An unsupported assembly may be rejected by the input schema before any scientific `unsupported` status exists. 3. Remove or refuse patient names, case identifiers, phenotypes, family history, segregation evidence, clinical records, uploaded files, and other private or patient-specific context. 4. If the task depends on patient context, stop and explain that Folklore Clinical Variant Interpretation MCP does not accept or evaluate it. 5. Never transform a patient-specific request into a public variant query while implying that the result answers the patient-specific question.

Accepted public variant forms include genomic coordinates, genomic/coding/ protein HGVS, SPDI, rsID, or a `canonical_key` returned by Folklore Clinical Variant Interpretation MCP.

Verify the live tool catalog

Connect to the hosted endpoint and call `tools/list`. Verify the available tools instead of relying on model memory. The documented public catalog contains:

• `search_variant_evidence`
• `search_variant_literature`
• `get_publication_details`
• `search_literature_corpus`
• `get_gene_disease_associations`
• `search_disease_genes`

The separate seventh tool `support_helena` is not scientific evidence; use it only when explicitly requested.

If discovery or a tool call fails, preserve the failure as an availability problem. Do not reinterpret it as lack of scientific evidence.

Read [the public MCP contract](references/mcp-contract.md) before composing tool calls or interpreting response states.

Retrieve gene-disease assertions

Use `get_gene_disease_associations` for one exact gene symbol or HGNC identifier, or `search_disease_genes` for an exact MONDO identifier or public disease-name substring. Both accept `limit` (default 20, 1–50) and `offset` (default 0, 0–1000). See the reference for request exa