gnomad-genetics-mcp-server
io.github.cyanheads/gnomad-genetics-mcp-serverHuman population genetics over gnomAD — variant allele frequencies by ancestry, gene loss-of-function constraint, and per-gene variant lists with ClinVar significance.
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Tools · 7
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, tr…
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 fo…
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 …
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×), separat…
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…
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…
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_c…
Prompts · 1
Guided rare-disease variant-triage workflow over gnomAD: pull the variant population record, weigh it against gene loss-of-function constraint, and — critically — confirm the position is well-covered …
How to use
Add to your Claude Desktop / Cursor / Cline MCP config:
{
"mcpServers": {
"gnomad-genetics-mcp-server": {
"url": "https://gnomad-genetics.caseyjhand.com/mcp",
"transport": "http"
}
}
}