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io.github.cyanheads/gnomad-genetics-mcp-server

io.github.cyanheads/gnomad-genetics-mcp-server · v0.4.1

Measured by MCP Station

Description written by the publisher, not verified

Ancestry allele frequencies, LoF constraint, variant lists, and coverage from gnomAD, with ClinVar.

Connect

claude mcp add --transport http gnomad-genetics-mcp-server https://gnomad-genetics.caseyjhand.com/mcp

{
  "mcpServers": {
    "gnomad-genetics-mcp-server": {
      "url": "https://gnomad-genetics.caseyjhand.com/mcp"
    }
  }
}

Tools as reported by the server

• gnomad_get_variant
  Fetch the full gnomAD population record for one or more variants — allele count/number/frequency overall and broken down per genetic-ancestry group, homozygote and hemizygote counts, quality flags, transcript consequence, in-silico predictor scores, and joined ClinVar clinical significance. The "how
• gnomad_get_gene_constraint
  Fetch gnomAD loss-of-function constraint for a gene — pLI (probability of LoF intolerance; >0.9 intolerant), LOEUF (oe_lof_upper, the headline metric) plus its lower bound, observed/expected ratios for LoF, missense, and synonymous variation, and the three Z-scores. This is the orthogonal axis to al
• gnomad_list_gene_variants
  List every gnomAD variant in a gene, transcript, or region with allele frequencies and predicted consequences, optionally filtered to one consequence class (lof, missense, synonymous, other) and/or a maximum allele frequency. A result too large to inline is staged on a DataCanvas table named gene_va
• gnomad_get_coverage
  Fetch gnomAD sequencing-coverage summary across a gene, transcript, or region — mean and median read depth, plus the mean fraction of samples covered at each depth threshold (1× through 100×), separated by exome and genome track. gnomAD reports coverage in buckets: 1 bp for a region spanning under 8
• gnomad_search_clinvar
  Search ClinVar (NCBI E-utilities) for a gene and return its classified variants — clinical significance, review status with a 0–4 star rating, associated conditions, molecular consequences, submission counts, and gnomAD-compatible identifiers (canonical SPDI, rsIDs, GRCh38 variant ID for gnomad_get_
• gnomad_dataframe_query
  Run a read-only SQL SELECT against a canvas table staged by gnomad_list_gene_variants (table gene_variants) or gnomad_search_clinvar (table clinvar_variants) and return one page of the result. Use the canvas_id and table_name those tools returned to rank by allele frequency, group by consequence cla
• gnomad_dataframe_describe
  List the tables staged on a canvas and their columns (name and type) so you can write correct SQL for gnomad_dataframe_query. Use the canvas_id returned by gnomad_list_gene_variants or gnomad_search_clinvar. Returns one entry per table with its row count and column schema.

Repository · JSON · Text for agents · Registry updated 2026-10-14