dbSNP (NCBI)
dbSNP, NCBI's database of human short genetic variants (build 157: 1.17 billion live RefSNPs), through the keyless NCBI Variation Services API. Read one RefSNP by rsID: its GRCh38 and GRCh37 chromosome positions (1-based) and alleles with SPDI and HGVS, RefSeqGene placement, the genes, MANE Select and RefSeq transcripts it hits with HGVS c./p., one-letter amino-acid change and Sequence Ontology consequences, allele frequencies from each contributing study (gnomAD, 1000 Genomes, TOPMed, ALFA and about 30 others), ClinVar significance with RCV and VCV accessions and MONDO/OMIM/MedGen condition IDs, and citing PubMed IDs. Or read ALFA allele counts and frequencies across its 12 populations. Merged rsIDs are followed; withdrawn, unsupported and unknown ones are not_found with the reason. NCBI places no restrictions on the data; every result carries attribution, the contributing studies and, for ALFA, NIH's genomic summary results terms.
Try dbSNP (NCBI) now.
Choose an example or ask your own question.
const result = await firecrawl.scrape({
alexandria: {
provider: "snp-ncbi-nlm-nih-gov",
capability: "variants/frequency",
options: {
rsid: "rs429358",
},
},
});This is a sample shape. Press Run to see live data from dbSNP (NCBI).
{
"alfa_build": "20260205170148",
"alleles": [
"T",
"C"
],
"assembly": "GRCh38",
"bioproject_id": "PRJNA507278",
"intervals": [
{
"length": 1,
"position_key": "1@44908683",
"reference": "T",
"start": 44908684
}
],
"license": {
"attribution": "ALFA: Allele Frequency Aggregator (Phan L. et al.), release 20260205170148, National Center for Biotechnology Information, U.S. National Library of Medicine: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/ (rs429358: https://www.ncbi.nlm.nih.gov/snp/rs429358)",
"gsr_notice": "ALFA frequencies are NIH genomic summary results from dbGaP studies. NIH expects them to be used responsibly: do not attempt to re-identify or contact any individual or group within a study population, or generate information that could allow participants' identities to be readily ascertained, and use them to promote scientific research or health. Terms: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/terms_of_use/",
"name": "Public domain (NCBI)",
"url": "https://www.ncbi.nlm.nih.gov/home/about/policies/"
},
"observed_at_ms": 1793396199006,
"populations": [
{
"alleles": [
{
"allele": "T",
"count": 337205,
"frequency": 0.964556,
"is_reference": true
},
{
"allele": "C",
"count": 12391,
"frequency": 0.0354438,
"is_reference": false
}
],
"biosample_id": "SAMN10492705",
"description": "Total (~global) across all populations",
"group": "Global",
"parent": null,
"population": "Total",
"position_key": "1@44908683",
"total_count": 349596
},
{
"alleles": [
{
"allele": "T",
"count": 264725,
"frequency": 0.968816,
"is_reference": true
},
{
"allele": "C",
"count": 8521,
"frequency": 0.0311844,
"is_reference": false
}
],
"biosample_id": "SAMN10492695",
"description": "European",
"group": "Sub",
"parent": "Total",
"population": "European",
"position_key": "1@44908683",
"total_count": 273246
},
{
"alleles": [
{
"allele": "T",
"count": 35487,
"frequency": 0.947381,
"is_reference": true
},
{
"allele": "C",
"count": 1971,
"frequency": 0.0526189,
"is_reference": false
}
],
"biosample_id": "SAMN10492703",
"description": "All Africans, AFO and AFA Individuals",
"group": "Sub",
"parent": "Total",
"population": "African",
"position_key": "1@44908683",
"total_count": 37458
},
{
"alleles": [
{
"allele": "T",
"count": 1324,
"frequency": 0.95389,
"is_reference": true
},
{
"allele": "C",
"count": 64,
"frequency": 0.0461095,
"is_reference": false
}
],
"biosample_id": "SAMN10492696",
"description": "Individuals with African ancestry",
"group": "Sub",
"parent": "African",
"population": "African Others",
"position_key": "1@44908683",
"total_count": 1388
},
{
"alleles": [
{
"allele": "T",
"count": 34163,
"frequency": 0.947131,
"is_reference": true
},
{
"allele": "C",
"count": 1907,
"frequency": 0.0528694,
"is_reference": false
}
],
"biosample_id": "SAMN10492698",
"description": "African American",
"group": "Sub",
"parent": "African",
"population": "African American",
"position_key": "1@44908683",
"total_count": 36070
},
{
"alleles": [
{
"allele": "T",
"count": 8741,
"frequency": 0.969069,
"is_reference": true
},
{
"allele": "C",
"count": 279,
"frequency": 0.0309313,
"is_reference": false
}
],
"biosample_id": "SAMN10492704",
"description": "Asian Individiuals excluding South Asian",
"group": "Sub",
"parent": "Total",
"population": "Asian",
"position_key": "1@44908683",
"total_count": 9020
},
{
"alleles": [
{
"allele": "T",
"count": 7047,
"frequency": 0.973074,
"is_reference": true
},
{
"allele": "C",
"count": 195,
"frequency": 0.0269263,
"is_reference": false
}
],
"biosample_id": "SAMN10492697",
"description": "East Asian (95%)",
"group": "Sub",
"parent": "Asian",
"population": "East Asian",
"position_key": "1@44908683",
"total_count": 7242
},
{
"alleles": [
{
"allele": "T",
"count": 1694,
"frequency": 0.952756,
"is_reference": true
},
{
"allele": "C",
"count": 84,
"frequency": 0.0472441,
"is_reference": false
}
],
"biosample_id": "SAMN10492701",
"description": "Asian Individiuals excluding South or East Asian",
"group": "Sub",
"parent": "Asian",
"population": "Other Asian",
"position_key": "1@44908683",
"total_count": 1778
},
{
"alleles": [
{
"allele": "T",
"count": 5644,
"frequency": 0.959211,
"is_reference": true
},
{
"allele": "C",
"count": 240,
"frequency": 0.0407886,
"is_reference": false
}
],
"biosample_id": "SAMN10492699",
"description": "Latin American individiuals with Afro-Caribbean ancestry",
"group": "Sub",
"parent": "Total",
"population": "Latin American 1",
"position_key": "1@44908683",
"total_count": 5884
},
{
"alleles": [
{
"allele": "T",
"count": 5956,
"frequency": 0.964378,
"is_reference": true
},
{
"allele": "C",
"count": 220,
"frequency": 0.0356218,
"is_reference": false
}
],
"biosample_id": "SAMN10492700",
"description": "Latin American individiuals with mostly European and Native American Ancestry",
"group": "Sub",
"parent": "Total",
"population": "Latin American 2",
"position_key": "1@44908683",
"total_count": 6176
},
{
"alleles": [
{
"allele": "T",
"count": 3345,
"frequency": 0.977499,
"is_reference": true
},
{
"allele": "C",
"count": 77,
"frequency": 0.0225015,
"is_reference": false
}
],
"biosample_id": "SAMN10492702",
"description": "South Asian",
"group": "Sub",
"parent": "Total",
"population": "South Asian",
"position_key": "1@44908683",
"total_count": 3422
},
{
"alleles": [
{
"allele": "T",
"count": 13307,
"frequency": 0.924739,
"is_reference": true
},
{
"allele": "C",
"count": 1083,
"frequency": 0.0752606,
"is_reference": false
}
],
"biosample_id": "SAMN11605645",
"description": "The self-reported population is inconsistent with the GRAF-assigned population",
"group": "Sub",
"parent": "Total",
"population": "Other",
"position_key": "1@44908683",
"total_count": 14390
}
],
"rsid": "rs429358",
"source_url": "https://www.ncbi.nlm.nih.gov/snp/rs429358#frequency_tab",
"study": "ALFA (Allele Frequency Aggregator)"
}Data from dbSNP and ALFA (Allele Frequency Aggregator), National Center for Biotechnology Information, U.S. National Library of Medicine. NCBI places no restrictions on its use; credit the studies behind each frequency. ALFA frequencies are NIH genomic summary results: do not use them to re-identify study participants (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/terms_of_use/). (https://www.ncbi.nlm.nih.gov/home/about/policies/)