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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-189854773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189854773&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189854773,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000441310.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_000534.5",
"protein_id": "NP_000525.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 932,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000441310.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000441310.7",
"protein_id": "ENSP00000406490.3",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 932,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_000534.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000409593.5",
"protein_id": "ENSP00000387169.1",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 555,
"cds_start": 856,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.1384G>A",
"hgvs_p": null,
"transcript": "ENST00000424059.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001321045.2",
"protein_id": "NP_001307974.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 932,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001321047.2",
"protein_id": "NP_001307976.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 932,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001321048.2",
"protein_id": "NP_001307977.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 932,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "NM_001128143.2",
"protein_id": "NP_001121615.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 893,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "ENST00000409823.7",
"protein_id": "ENSP00000387125.3",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 893,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Gly440Arg",
"transcript": "NM_001321046.2",
"protein_id": "NP_001307975.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 871,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001128144.2",
"protein_id": "NP_001121616.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 770,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000447232.6",
"protein_id": "ENSP00000401064.2",
"transcript_support_level": 2,
"aa_start": 501,
"aa_end": null,
"aa_length": 770,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Arg",
"transcript": "NM_001289408.2",
"protein_id": "NP_001276337.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 756,
"cds_start": 973,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Arg",
"transcript": "NM_001289409.2",
"protein_id": "NP_001276338.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 756,
"cds_start": 973,
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"cds_length": 2271,
"cdna_start": 1379,
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"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Arg",
"transcript": "ENST00000432292.7",
"protein_id": "ENSP00000398378.3",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 756,
"cds_start": 973,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Arg",
"transcript": "ENST00000624204.3",
"protein_id": "ENSP00000485312.1",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 756,
"cds_start": 973,
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"cdna_start": 1927,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "NM_001321044.2",
"protein_id": "NP_001307973.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 731,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Gly440Arg",
"transcript": "ENST00000424307.5",
"protein_id": "ENSP00000389938.1",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 710,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "ENST00000418224.7",
"protein_id": "ENSP00000404492.4",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 667,
"cds_start": 1384,
"cds_end": null,
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"cdna_start": 1913,
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"cdna_length": 3018,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "XM_017004344.2",
"protein_id": "XP_016859833.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 893,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1674,
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"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "XM_024452966.2",
"protein_id": "XP_024308734.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 893,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Arg",
"transcript": "XM_024452967.2",
"protein_id": "XP_024308735.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 893,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1384G>A",
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{
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"effects": [
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3 O:1",
"phenotype_combined": "not specified|not provided|Lynch syndrome 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}