Gnomad Genetics MCP Server
Ancestry allele frequencies, LoF constraint, variant lists, and coverage from gnomAD, with ClinVar.
Connect it
Settings → Connectors → Add custom connector
URL: https://gnomad-genetics.caseyjhand.com/mcpSettings → Apps & Connectors → Advanced → Developer mode
Create connector with URL: https://gnomad-genetics.caseyjhand.com/mcp{
"mcpServers": {
"gnomad-genetics-mcp-server": {
"url": "https://gnomad-genetics.caseyjhand.com/mcp"
}
}
}claude mcp add --transport http gnomad-genetics-mcp-server https://gnomad-genetics.caseyjhand.com/mcp{
"servers": {
"gnomad-genetics-mcp-server": {
"type": "http",
"url": "https://gnomad-genetics.caseyjhand.com/mcp"
}
}
}{
"mcpServers": {
"gnomad-genetics-mcp-server": {
"command": "npx",
"args": [
"-y",
"@cyanheads/gnomad-genetics-mcp-server@0.4.1"
]
}
}
}claude mcp add gnomad-genetics-mcp-server -- npx -y @cyanheads/gnomad-genetics-mcp-server@0.4.17 tools, verified live
gnomad_get_variantread-onlyFetch the full gnomAD population record for one or more variants â 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 common, is it benign" answer in one call. Accepts a batch of up to 25 IDs (chrom-pos-ref-alt or r
gnomad_get_gene_constraintread-onlyFetch gnomAD loss-of-function constraint for a gene â 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 allele frequency: a loss-of-function variant matters far more in a gene intolerant to being broken.
gnomad_list_gene_variantsread-onlyList 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_variants, returned as canvas_id and table_name beside an inline preview â call gnomad_dataframe_desc
gnomad_get_coverageread-onlyFetch gnomAD sequencing-coverage summary across a gene, transcript, or region â mean and median read depth, plus the mean fraction of samples covered at each depth threshold (1Ã through 100Ã), separated by exome and genome track. gnomAD reports coverage in buckets: 1 bp for a region spanning under 850 bp, wider for larger targets (bucket_size), and a gene or transcript is summarized over its e
gnomad_search_clinvarread-onlySearch ClinVar (NCBI E-utilities) for a gene and return its classified variants â clinical significance, review status with a 0â4 star rating, associated conditions, molecular consequences, submission counts, and gnomAD-compatible identifiers (canonical SPDI, rsIDs, GRCh38 variant ID for gnomad_get_variant) â turning the variant-level significance gnomAD joins into a gene-panel curation view
gnomad_dataframe_queryread-onlyRun 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 class, count loss-of-function variants, or filter the full set the inline preview only sampled. A page
gnomad_dataframe_describeread-onlyList 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.
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