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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: 6-45014815-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=45014815&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 45014815,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_181356.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "NM_003599.4",
"protein_id": "NP_003590.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371459.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003599.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "ENST00000371459.6",
"protein_id": "ENSP00000360514.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003599.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371459.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.Asp128Val",
"transcript": "ENST00000371460.5",
"protein_id": "ENSP00000360515.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 328,
"cds_start": 383,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371460.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.404A>T",
"hgvs_p": "p.Asp135Val",
"transcript": "ENST00000889037.1",
"protein_id": "ENSP00000559096.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 335,
"cds_start": 404,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889037.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.Asp128Val",
"transcript": "NM_181356.3",
"protein_id": "NP_852001.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 328,
"cds_start": 383,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181356.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "NM_001350324.2",
"protein_id": "NP_001337253.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 350,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350324.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "NM_001350329.2",
"protein_id": "NP_001337258.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350329.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.344A>T",
"hgvs_p": "p.Asp115Val",
"transcript": "NM_001350325.2",
"protein_id": "NP_001337254.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 315,
"cds_start": 344,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350325.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.287A>T",
"hgvs_p": "p.Asp96Val",
"transcript": "NM_001350326.2",
"protein_id": "NP_001337255.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 296,
"cds_start": 287,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350326.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.164A>T",
"hgvs_p": "p.Asp55Val",
"transcript": "ENST00000637763.2",
"protein_id": "ENSP00000490652.2",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 255,
"cds_start": 164,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637763.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.92A>T",
"hgvs_p": "p.Asp31Val",
"transcript": "NM_001350327.2",
"protein_id": "NP_001337256.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 231,
"cds_start": 92,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350327.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.Asp128Val",
"transcript": "XM_011514949.4",
"protein_id": "XP_011513251.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 330,
"cds_start": 383,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514949.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.Asp128Val",
"transcript": "XM_017011370.2",
"protein_id": "XP_016866859.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 330,
"cds_start": 383,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011370.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_011514952.3",
"protein_id": "XP_011513254.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 350,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514952.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_011514953.4",
"protein_id": "XP_011513255.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 350,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514953.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_011514954.4",
"protein_id": "XP_011513256.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 350,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514954.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_017011371.2",
"protein_id": "XP_016866860.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011371.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_024446572.2",
"protein_id": "XP_024302340.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446572.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "XM_047419416.1",
"protein_id": "XP_047275372.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 350,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419416.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.Asp128Val",
"transcript": "XM_047419417.1",
"protein_id": "XP_047275373.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 239,
"cds_start": 383,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419417.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.92A>T",
"hgvs_p": "p.Asp31Val",
"transcript": "XM_017011374.3",
"protein_id": "XP_016866863.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 233,
"cds_start": 92,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011374.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-93+5731A>T",
"hgvs_p": null,
"transcript": "NM_001261823.2",
"protein_id": "NP_001248752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261823.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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],
"message": null
}