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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: 9-4125740-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4125740&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 4125740,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042413.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001042413.2",
"protein_id": "NP_001035878.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 590,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "ENST00000381971.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042413.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "ENST00000381971.8",
"protein_id": "ENSP00000371398.3",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 590,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "NM_001042413.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381971.8"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000324333.14",
"protein_id": "ENSP00000325494.10",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 775,
"cds_start": 125,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324333.14"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "ENST00000477901.5",
"protein_id": "ENSP00000417794.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 243,
"cds_start": 590,
"cds_end": null,
"cds_length": 733,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477901.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "ENST00000481827.5",
"protein_id": "ENSP00000417883.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 243,
"cds_start": 590,
"cds_end": null,
"cds_length": 733,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481827.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000462164.5",
"protein_id": "ENSP00000418671.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 88,
"cds_start": 125,
"cds_end": null,
"cds_length": 268,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462164.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000478315.5",
"protein_id": "ENSP00000418995.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 88,
"cds_start": 125,
"cds_end": null,
"cds_length": 268,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478315.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000478844.5",
"protein_id": "ENSP00000418005.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 88,
"cds_start": 125,
"cds_end": null,
"cds_length": 268,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478844.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.356-6859A>T",
"hgvs_p": null,
"transcript": "ENST00000473846.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.417-6859A>T",
"hgvs_p": null,
"transcript": "ENST00000490709.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.389-6859A>T",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491889.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001438906.1",
"protein_id": "NP_001425835.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 590,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438906.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001438907.1",
"protein_id": "NP_001425836.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 590,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 7253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438907.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001438908.1",
"protein_id": "NP_001425837.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 590,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438908.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "NM_001438909.1",
"protein_id": "NP_001425838.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 775,
"cds_start": 125,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438909.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "NM_152629.4",
"protein_id": "NP_689842.3",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 775,
"cds_start": 125,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152629.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000682749.1",
"protein_id": "ENSP00000507306.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 775,
"cds_start": 125,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682749.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001438913.1",
"protein_id": "NP_001425842.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 591,
"cds_start": 590,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438913.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Asp197Val",
"transcript": "NM_001438914.1",
"protein_id": "NP_001425843.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 572,
"cds_start": 590,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438914.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "NM_001438915.1",
"protein_id": "NP_001425844.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 436,
"cds_start": 125,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438915.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000645097.1",
"protein_id": "ENSP00000495666.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 56,
"cds_start": 125,
"cds_end": null,
"cds_length": 171,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645097.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.125A>T",
"hgvs_p": "p.Asp42Val",
"transcript": "ENST00000683998.1",
"protein_id": "ENSP00000507983.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 56,
"cds_start": 125,
"cds_end": null,
"cds_length": 171,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683998.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
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}
],
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}