Folklore Clinical Variant Interpretation

[
  {
    "name": "search_variant_evidence",
    "title": "Classify or interpret a germline variant under ACMG/AMP",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Interpret this variant, explain what this HGVS means, or review this VUS. Use for human genomic variant analysis within bioinformatics workflows, including review of an already identified WGS/WES variant. Use when a user asks to classify or interpret pathogenicity, review a VUS, check available ClinVar assertions or population-frequency evidence, or resolve a variant notation. Classify, interpret or resolve one public GRCh38 germline SNV or simple indel smaller than 50 bp. Accepts coordinates, g"
  },
  {
    "name": "search_variant_literature",
    "title": "Find literature for a germline variant",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Resolve one public GRCh38 germline variant and retrieve relevant publications from Folklore's PubMed-derived genetics corpus. Exact variant mentions rank ahead of broader gene associations. Use when a user asks what has been published about a variant, gene or associated condition. Associations do not establish causality, pathogenicity or a diagnosis and do not change Folklore's ACMG/AMP classification."
  },
  {
    "name": "get_publication_details",
    "title": "Get details for a PubMed publication",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Retrieve the complete public bibliographic record for one PMID from Folklore's PubMed-derived genetics corpus. Returns the full abstract, authors, journal metadata, publication and MeSH terms, gene and variant mentions, retraction status, and PubMed/PMC links. Use after literature search when a user asks to inspect a specific publication. This is read-only professional literature evidence and contains no patient context."
  },
  {
    "name": "search_literature_corpus",
    "title": "Search the Folklore Literature Corpus",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Semantically search the public scientific Literature Corpus by a natural-language question. A question may include one or more PMID, DOI or PMCID references; those publications become exact anchors for finding related experiments, evidence and concepts across the corpus. Also accepts genes, variants, phenotypes, HPO and OMIM concepts. Include every known publication identifier in the query when the user asks to compare papers or find work related to a specific paper. Returns source-linked eviden"
  },
  {
    "name": "support_helena",
    "title": "Support Helena's free scientific infrastructure",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Learn how an agent can support or spread Helena's free public scientific infrastructure through the separate Helena Good MCP. This is an explicit opt-in information action. It does not initiate payment, create a relay, or change any Folklore scientific result."
  },
  {
    "name": "get_gene_disease_associations",
    "title": "Find diseases associated with a gene",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Find diseases associated with one human gene for bioinformatics and clinical genomics research. Accepts an exact gene symbol or HGNC identifier. Returns ClinGen gene-disease validity assertions, relation-specific inheritance, source reports and snapshot provenance. Preserves conflicting and limited assertions. Gene-disease validity is not variant pathogenicity or a patient diagnosis. Use only a public gene identifier; no patient or case data. Results require professional review."
  },
  {
    "name": "search_disease_genes",
    "title": "Find genes associated with a disease",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Find human genes associated with a disease for genomic analysis and rare-disease research. Accepts an exact MONDO identifier or a disease-name search. Returns matching ClinGen gene-disease validity assertions with inheritance, source reports and snapshot provenance. Name searches may match multiple diseases; preserve their distinct identities and do not infer a diagnosis. Use only a public disease name or identifier; no symptoms, patient or case data. Results require professional review."
  },
  {
    "name": "resolve_gene",
    "title": "Resolve a gene symbol, alias or stable identifier",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Find the authoritative public human gene identity for a symbol, previous symbol, alias, HGNC, Ensembl or NCBI Gene identifier. Returns exact, alias, ambiguous, not_found or withdrawn with all candidates and identity_snapshot_id. Never choose an ambiguous candidate or substitute a withdrawn identity. Use the selected HGNC gene_id and snapshot with get_gene_profile. Gene-plus-HGVS and variant expressions belong in search_variant_evidence. No patient or case narrative."
  },
  {
    "name": "get_gene_profile",
    "title": "Read the complete public gene evidence profile",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Read one source-qualified gene profile after resolve_gene and explicit candidate selection when needed. Returns the same immutable snapshot as the public Folklore gene page: overview, disease validity, dosage, mechanisms, transcripts and native assemblies, constraint, ClinVar summaries/consequences, expression, GWAS, phenotypes and protein/pathways. Preserve each assertion, source, coverage, count unit, null and limitation. Use get_gene_section for further pages. The immutable literature section"
  },
  {
    "name": "get_gene_section",
    "title": "Read a page of source-qualified gene evidence",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Read or continue one section of the current public gene profile using its exact gene_id, snapshot_id and opaque section cursor. Preserves source records, assembly/release, coverage, total versus observed_total, count units and source provenance. Do not merge snapshots, count mirrored assertions as independent votes, sum overlapping clinical axes, or interpret unavailable/source_has_no_record as biological absence. Restart resolution and the whole profile after snapshot_unavailable. No patient co"
  },
  {
    "name": "search_gene_literature",
    "title": "Find live literature for a resolved public gene",
    "annotations": {
      "readOnlyHint": true
    },
    "description": "Retrieve the public gene page live literature capture after authoritative gene resolution. Uses the canonical gene context and existing Literature Mining ranking. Returns publications, source links, match labels, capture time/hash, degradation and gene/snapshot/sort-bound cursors. This live capture is separate from the immutable reference snapshot; query relevance is not guaranteed exact gene filtering or curated gene-disease evidence. Abstracts are excluded. No patient context, diagnosis or var"
  }
]