Firecrawl Alexandria
Population allele frequencies and gene constraint (Broad Institute)
gnomAD, the Genome Aggregation Database of the Broad Institute, through the public GraphQL API behind its browser: how often a variant occurs in 807,162 people (v4.1) by sequencing type (exomes, genomes, both combined) and genetic ancestry group, with homozygote and hemizygote counts, quality filters, the grpmax filtering allele frequency and its consequence on the MANE Select transcript with LOFTEE's loss-of-function call; a gene's constraint (pLI, LOEUF with its confidence interval and percentile, observed and expected pLoF, missense and synonymous variants, z scores); and the variants gnomAD lists in a gene, filtered by consequence, LOFTEE call and allele frequency. Takes gene symbols, Ensembl IDs, gnomAD variant IDs, rsIDs, ClinGen allele IDs and browser URLs, on gnomAD v4.1 and v3.1.2 (GRCh38) or v2.1.1 (GRCh37). Primary data is CC0: every answer carries gnomAD's attribution, citation and terms of use.
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const result = await firecrawl.scrape({
alexandria: {
provider: "gnomad-broadinstitute-org",
capability: "variants/frequency",
options: {
variant: "rs429358",
},
},
});2Response example
This is a sample shape. Press Run to see live data from Population allele frequencies and gene constraint (Broad Institute).
{
"dataset": "gnomad_r4",
"dataset_version": "gnomAD v4.1.2",
"license": {
"attribution": "This tool includes data from the gnomAD v4.1.2 release (Genome Aggregation Database, Broad Institute), https://gnomad.broadinstitute.org/. Source: https://gnomad.broadinstitute.org/variant/19-44908684-T-C?dataset=gnomad_r4. gnomAD asks that uses of its data cite its flagship paper and link to the browser.",
"citation": "Guez J, Goodrich JK, Moldovan MA, et al. Integrating 730,947 exome sequences with clinical literature improves gene discovery. medRxiv [Preprint] (2026). https://doi.org/10.64898/2026.03.23.26349081",
"name": "CC0 1.0 (gnomAD primary data)",
"terms": "All users of gnomAD data agree to not attempt to reidentify participants. (gnomAD terms of use, https://gnomad.broadinstitute.org/policies)",
"url": "https://creativecommons.org/publicdomain/zero/1.0/"
},
"observed_at_ms": 1793397648465,
"query": "rs429358",
"query_type": "rsid",
"reference_genome": "GRCh38",
"variants": [
{
"alt": "C",
"caid": "CA127512",
"chrom": "19",
"colocated_variants": [
"19-44908684-TGCGGCC-T"
],
"exome": {
"ac": 208931,
"af": 0.14757098460234497,
"an": 1415800,
"by_sex": null,
"faf95": {
"faf": 0.2222636,
"group": "afr",
"group_label": "African/African American"
},
"filters": [],
"flags": [],
"hemizygote_count": 0,
"homozygote_count": 15700,
"populations": [
{
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"an": 32174,
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"hemizygote_count": 0,
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"id": "afr",
"label": "African/African American"
},
{
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"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 204,
"id": "amr",
"label": "Admixed American"
},
{
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"an": 25280,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 177,
"id": "asj",
"label": "Ashkenazi Jewish"
},
{
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"id": "eas",
"label": "East Asian"
},
{
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"an": 49490,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 911,
"id": "fin",
"label": "European (Finnish)"
},
{
"ac": 384,
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"an": 5642,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 15,
"id": "mid",
"label": "Middle Eastern"
},
{
"ac": 164927,
"af": 0.15142197673863464,
"an": 1089188,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 12315,
"id": "nfe",
"label": "European (non-Finnish)"
},
{
"ac": 8181,
"af": 0.10039761431411531,
"an": 81486,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 486,
"id": "sas",
"label": "South Asian"
},
{
"ac": 8171,
"af": 0.13929423798158883,
"an": 58660,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 609,
"id": "remaining",
"label": "Remaining"
}
]
},
"flags": [],
"gene_consequences": [
{
"consequence": "missense_variant",
"consequence_terms": [
"missense_variant"
],
"ensembl_gene_id": "ENSG00000130203",
"gene_symbol": "APOE",
"hgvsc": "c.388T>C",
"hgvsp": "p.Cys130Arg",
"is_canonical": true,
"is_mane_select": true,
"loftee": null,
"refseq_id": "NM_000041",
"refseq_version": "4",
"transcript_id": "ENST00000252486",
"transcript_version": "9"
}
],
"genome": {
"ac": 23933,
"af": 0.1573587039423507,
"an": 152092,
"by_sex": null,
"faf95": {
"faf": 0.21196047,
"group": "afr",
"group_label": "African/African American"
},
"filters": [],
"flags": [],
"hemizygote_count": 0,
"homozygote_count": 2010,
"populations": [
{
"ac": 8954,
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"hemizygote_count": 0,
"homozygote_count": 955,
"id": "afr",
"label": "African/African American"
},
{
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"by_sex": null,
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"homozygote_count": 95,
"id": "amr",
"label": "Admixed American"
},
{
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"homozygote_count": 20,
"id": "asj",
"label": "Ashkenazi Jewish"
},
{
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"id": "eas",
"label": "East Asian"
},
{
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"an": 10600,
"by_sex": null,
"hemizygote_count": 0,
"homozygote_count": 189,
"id": "fin",
"label": "European (Finnish)"
},
{
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"id": "mid",
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},
{
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"id": "nfe",
"label": "European (non-Finnish)"
},
{
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"id": "ami",
"label": "Amish"
},
{
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},
{
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"id": "remaining",
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}
]
},
"gnomad_url": "https://gnomad.broadinstitute.org/variant/19-44908684-T-C?dataset=gnomad_r4",
"joint": {
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"by_sex": null,
"faf95": {
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"group": "afr",
"group_label": "African/African American"
},
"filters": [
"discrepant_frequencies"
],
"flags": [],
"hemizygote_count": 0,
"homozygote_count": 17710,
"populations": [
{
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"id": "afr",
"label": "African/African American"
},
{
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"id": "amr",
"label": "Admixed American"
},
{
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"id": "asj",
"label": "Ashkenazi Jewish"
},
{
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"id": "eas",
"label": "East Asian"
},
{
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"id": "fin",
"label": "European (Finnish)"
},
{
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"id": "mid",
"label": "Middle Eastern"
},
{
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"id": "nfe",
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},
{
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"id": "ami",
"label": "Amish"
},
{
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"homozygote_count": 522,
"id": "sas",
"label": "South Asian"
},
{
"ac": 8414,
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"hemizygote_count": 0,
"homozygote_count": 623,
"id": "remaining",
"label": "Remaining"
}
]
},
"pos": 44908684,
"ref": "T",
"rsids": [
"rs429358"
],
"variant_id": "19-44908684-T-C"
}
]
}This tool includes data from the gnomAD v4.1 release (Genome Aggregation Database, Broad Institute). gnomAD primary data is CC0 1.0; SpliceAI and in-silico predictor scores are not included. Users agree not to attempt to reidentify participants. Cite the gnomAD flagship paper and link to the browser when you reuse it. (https://gnomad.broadinstitute.org/policies)
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