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helena-bioinformatics/folklore-clinical-variant-mcp

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App README

Folklore Clinical Variant Interpretation MCP

Official public MCP from Helena Bioinformatics for genomic variant interpretation, gene-disease evidence and scientific literature. Adapter version: 1.5.0.

Classify a supported GRCh38 germline variant under ACMG/AMP, find diseases associated with a gene, find genes associated with a disease, or review related publications with source provenance.

Connect your AI agent

—Streamable HTTP endpoint: https://api.helena.bio/folklore/v1/mcp
—Authentication: no account or API key required.
—Connection instructions and integrations
—Folklore
—Public source
—Official MCP Registry identity: io.github.helena-bioinformatics/folklore

This Static Space is a discovery page. Connect your MCP client to the canonical endpoint to discover the live tools and make calls. The Space does not run a separate MCP server or forward calls.

Seven available tools

Tool	Use it to
`search_variant_evidence`	Resolve a supported GRCh38 germline variant and obtain automated ACMG/AMP classification with structured evidence.
`search_variant_literature`	Find literature related to a variant.
`get_publication_details`	Retrieve source-linked publication details and provenance.
`search_literature_corpus`	Search scientific literature using public research questions or identifiers.
`support_helena`	Discover the separate, optional Helena Good support service.
`get_gene_disease_associations`	Find ClinGen gene-disease assertions using an exact gene symbol or HGNC identifier.
`search_disease_genes`	Find ClinGen assertions using a MONDO identifier or disease-name search.

New in 1.5.0: gene-disease evidence

Ask your agent: “Which diseases are associated with BRCA1?”

json

{"name":"get_gene_disease_associations","arguments":{"gene":"BRCA1","limit":20,"offset":0}}

Ask your agent: “Find genes associated with Fanconi anemia.”

json

{"name":"search_disease_genes","arguments":{"disease":"Fanconi anemia","limit":20,"offset":0}}

The initial gene-disease source is ClinGen Gene-Disease Validity. Results preserve each assertion’s disease identity, inheritance, source classification, original report and snapshot provenance. Limited, disputed and refuted assertions remain distinguishable. Name searches can match multiple diseases. Pagination accepts a limit of 1–50 and offset of 0–1000.

Unavailable reference data and timeouts are reported as errors, not as proof that no association exists. Existing variant and literature tools are retained; this release does not change the variant classifier.

Scope

Gene-disease validity is different from the pathogenicity of an individual variant. Results support qualified professional review and are not patient diagnoses or treatment advice. Do not submit patient records, symptoms, family or private case data. This release does not add raw DNA/VCF ingestion, batch variant processing or patient-specific analysis.