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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: 17-44147993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44147993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44147993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024032.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "NM_001171251.3",
"protein_id": "NP_001164722.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 646,
"cds_start": 190,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000585683.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171251.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000585683.6",
"protein_id": "ENSP00000466618.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 646,
"cds_start": 190,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001171251.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585683.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000319977.8",
"protein_id": "ENSP00000313500.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 647,
"cds_start": 190,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319977.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000245382.6",
"protein_id": "ENSP00000245382.5",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 521,
"cds_start": 190,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245382.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934744.1",
"protein_id": "ENSP00000604803.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 676,
"cds_start": 190,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934744.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "NM_024032.5",
"protein_id": "NP_076937.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 647,
"cds_start": 190,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024032.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000910124.1",
"protein_id": "ENSP00000580183.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 646,
"cds_start": 190,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910124.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "NM_001321311.2",
"protein_id": "NP_001308240.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 645,
"cds_start": 190,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321311.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000910123.1",
"protein_id": "ENSP00000580182.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 645,
"cds_start": 190,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910123.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.His47Tyr",
"transcript": "ENST00000934742.1",
"protein_id": "ENSP00000604801.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 629,
"cds_start": 139,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934742.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.His47Tyr",
"transcript": "ENST00000934752.1",
"protein_id": "ENSP00000604811.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 628,
"cds_start": 139,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934752.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934738.1",
"protein_id": "ENSP00000604797.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 619,
"cds_start": 190,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934738.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934733.1",
"protein_id": "ENSP00000604792.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 618,
"cds_start": 190,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934733.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934753.1",
"protein_id": "ENSP00000604812.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 604,
"cds_start": 190,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934753.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934735.1",
"protein_id": "ENSP00000604794.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 600,
"cds_start": 190,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934735.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000910121.1",
"protein_id": "ENSP00000580180.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 599,
"cds_start": 190,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910121.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934745.1",
"protein_id": "ENSP00000604804.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 599,
"cds_start": 190,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934745.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934734.1",
"protein_id": "ENSP00000604793.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 598,
"cds_start": 190,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934734.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934748.1",
"protein_id": "ENSP00000604807.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 581,
"cds_start": 190,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934748.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934749.1",
"protein_id": "ENSP00000604808.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 581,
"cds_start": 190,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934749.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000934743.1",
"protein_id": "ENSP00000604802.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 572,
"cds_start": 190,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934743.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HROB",
"gene_hgnc_id": 28460,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000910122.1",
"protein_id": "ENSP00000580181.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 571,
"cds_start": 190,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910122.1"
},
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"phenotype_combined": "not specified",
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}
],
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}