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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: 12-109788632-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109788632&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109788632,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000261740.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ser659*",
"transcript": "NM_021625.5",
"protein_id": "NP_067638.3",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 871,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "ENST00000261740.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ser659*",
"transcript": "ENST00000261740.7",
"protein_id": "ENSP00000261740.2",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 871,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "NM_021625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ser659*",
"transcript": "ENST00000418703.7",
"protein_id": "ENSP00000406191.2",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 871,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1874C>A",
"hgvs_p": "p.Ser625*",
"transcript": "ENST00000536838.1",
"protein_id": "ENSP00000444336.1",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 837,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1835C>A",
"hgvs_p": "p.Ser612*",
"transcript": "ENST00000541794.5",
"protein_id": "ENSP00000442167.1",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 824,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1796C>A",
"hgvs_p": "p.Ser599*",
"transcript": "ENST00000537083.5",
"protein_id": "ENSP00000442738.1",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 811,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Ser552*",
"transcript": "ENST00000544971.5",
"protein_id": "ENSP00000443611.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 764,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*359C>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*359C>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ser659*",
"transcript": "ENST00000675670.1",
"protein_id": "ENSP00000502135.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 871,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1874C>A",
"hgvs_p": "p.Ser625*",
"transcript": "NM_001177431.1",
"protein_id": "NP_001170902.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 837,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1835C>A",
"hgvs_p": "p.Ser612*",
"transcript": "NM_001177428.1",
"protein_id": "NP_001170899.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 824,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1796C>A",
"hgvs_p": "p.Ser599*",
"transcript": "NM_147204.2",
"protein_id": "NP_671737.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 811,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Ser552*",
"transcript": "NM_001177433.1",
"protein_id": "NP_001170904.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 764,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2129C>A",
"hgvs_p": "p.Ser710*",
"transcript": "XM_011538630.3",
"protein_id": "XP_011536932.2",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 922,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1988C>A",
"hgvs_p": "p.Ser663*",
"transcript": "XM_011538631.3",
"protein_id": "XP_011536933.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 875,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ser659*",
"transcript": "XM_017019774.2",
"protein_id": "XP_016875263.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 871,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1949C>A",
"hgvs_p": "p.Ser650*",
"transcript": "XM_011538632.3",
"protein_id": "XP_011536934.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 862,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1835C>A",
"hgvs_p": "p.Ser612*",
"transcript": "XM_047429293.1",
"protein_id": "XP_047285249.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 824,
"cds_start": 1835,
"cds_end": null,
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"cdna_start": 1915,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1808C>A",
"hgvs_p": "p.Ser603*",
"transcript": "XM_011538633.3",
"protein_id": "XP_011536935.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 815,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1796C>A",
"hgvs_p": "p.Ser599*",
"transcript": "XM_047429294.1",
"protein_id": "XP_047285250.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 811,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2129C>A",
"hgvs_p": "p.Ser710*",
"transcript": "XM_011538634.3",
"protein_id": "XP_011536936.2",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 793,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Ser552*",
"transcript": "XM_047429295.1",
"protein_id": "XP_047285251.1",
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"verdict": "Pathogenic",
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"clinvar_disease": "",
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}
],
"message": null
}