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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: 2-200439158-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200439158&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200439158,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001100423.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "NM_001100423.2",
"protein_id": "NP_001093893.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": "ENST00000409140.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000409140.8",
"protein_id": "ENSP00000386730.3",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": "NM_001100423.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000358677.9",
"protein_id": "ENSP00000351503.4",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.446-1491A>T",
"hgvs_p": null,
"transcript": "ENST00000360760.9",
"protein_id": "ENSP00000353989.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.572A>T",
"hgvs_p": "p.Asp191Val",
"transcript": "NM_001282744.2",
"protein_id": "NP_001269673.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 588,
"cds_start": 572,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.572A>T",
"hgvs_p": "p.Asp191Val",
"transcript": "ENST00000619961.4",
"protein_id": "ENSP00000482515.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 588,
"cds_start": 572,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.506A>T",
"hgvs_p": "p.Asp169Val",
"transcript": "ENST00000409151.5",
"protein_id": "ENSP00000386310.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 566,
"cds_start": 506,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "NM_001100422.1",
"protein_id": "NP_001093892.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "NM_001282735.1",
"protein_id": "NP_001269664.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "NM_015535.3",
"protein_id": "NP_056350.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000409718.5",
"protein_id": "ENSP00000386336.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000409988.7",
"protein_id": "ENSP00000386931.3",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000451764.6",
"protein_id": "ENSP00000391467.2",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.302A>T",
"hgvs_p": "p.Asp101Val",
"transcript": "NM_001282743.1",
"protein_id": "NP_001269672.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 498,
"cds_start": 302,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.302A>T",
"hgvs_p": "p.Asp101Val",
"transcript": "ENST00000409385.5",
"protein_id": "ENSP00000386391.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 498,
"cds_start": 302,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "ENST00000457757.5",
"protein_id": "ENSP00000389908.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 187,
"cds_start": 482,
"cds_end": null,
"cds_length": 564,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.572A>T",
"hgvs_p": "p.Asp191Val",
"transcript": "XM_011510938.2",
"protein_id": "XP_011509240.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 588,
"cds_start": 572,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.572A>T",
"hgvs_p": "p.Asp191Val",
"transcript": "XM_047443892.1",
"protein_id": "XP_047299848.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 588,
"cds_start": 572,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "XM_005246458.3",
"protein_id": "XP_005246515.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Asp161Val",
"transcript": "XM_047443894.1",
"protein_id": "XP_047299850.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 558,
"cds_start": 482,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.446-1491A>T",
"hgvs_p": null,
"transcript": "NM_001100424.1",
"protein_id": "NP_001093894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.446-1491A>T",
"hgvs_p": null,
"transcript": "ENST00000409397.6",
"protein_id": "ENSP00000386600.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": -4,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATS2L",
"gene_hgnc_id": 24574,
"hgvs_c": "c.431-1491A>T",
"hgvs_p": null,
"transcript": "ENST00000438761.5",
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}