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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: 3-43549802-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43549802&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 43549802,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346464.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_018075.5",
"protein_id": "NP_060545.3",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": "ENST00000292246.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018075.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000292246.8",
"protein_id": "ENSP00000292246.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": "NM_018075.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292246.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1145C>A",
"hgvs_p": "p.Ala382Glu",
"transcript": "ENST00000350459.8",
"protein_id": "ENSP00000327767.4",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 470,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350459.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1799C>A",
"hgvs_p": "p.Ala600Glu",
"transcript": "ENST00000970566.1",
"protein_id": "ENSP00000640625.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 711,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970566.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346464.2",
"protein_id": "NP_001333393.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346464.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346467.2",
"protein_id": "NP_001333396.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346467.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1799C>A",
"hgvs_p": "p.Ala600Glu",
"transcript": "ENST00000920383.1",
"protein_id": "ENSP00000590442.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 688,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920383.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910683.1",
"protein_id": "ENSP00000580742.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 683,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910683.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910688.1",
"protein_id": "ENSP00000580747.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 675,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910688.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000970567.1",
"protein_id": "ENSP00000640626.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 671,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970567.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1745C>A",
"hgvs_p": "p.Ala582Glu",
"transcript": "ENST00000920386.1",
"protein_id": "ENSP00000590445.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 670,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920386.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346463.2",
"protein_id": "NP_001333392.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 660,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346463.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_001346468.2",
"protein_id": "NP_001333397.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346468.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910680.1",
"protein_id": "ENSP00000580739.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910680.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910681.1",
"protein_id": "ENSP00000580740.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910681.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910682.1",
"protein_id": "ENSP00000580741.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910682.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910692.1",
"protein_id": "ENSP00000580751.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910692.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000920381.1",
"protein_id": "ENSP00000590440.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920381.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "ENST00000920390.1",
"protein_id": "ENSP00000590449.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 660,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920390.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000920391.1",
"protein_id": "ENSP00000590450.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920391.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000970565.1",
"protein_id": "ENSP00000640624.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970565.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000910690.1",
"protein_id": "ENSP00000580749.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 644,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1935,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}