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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: 11-130261003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130261003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130261003,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370219.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001301098.2",
"protein_id": "NP_001288027.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 570,
"cds_start": 871,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357899.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301098.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000357899.9",
"protein_id": "ENSP00000350574.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 570,
"cds_start": 871,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301098.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357899.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000530205.5",
"protein_id": "ENSP00000434177.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 474,
"cds_start": 871,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530205.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000525842.5",
"protein_id": "ENSP00000433457.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 871,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525842.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "n.871G>A",
"hgvs_p": null,
"transcript": "ENST00000445008.6",
"protein_id": "ENSP00000408079.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445008.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001370219.1",
"protein_id": "NP_001357148.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 616,
"cds_start": 871,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370219.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000527478.6",
"protein_id": "ENSP00000436187.2",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 616,
"cds_start": 871,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527478.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001370220.1",
"protein_id": "NP_001357149.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 598,
"cds_start": 871,
"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": "NM_001370220.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000397753.5",
"protein_id": "ENSP00000380861.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 570,
"cds_start": 871,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397753.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000884638.1",
"protein_id": "ENSP00000554697.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 570,
"cds_start": 871,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884638.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000962914.1",
"protein_id": "ENSP00000632973.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 570,
"cds_start": 871,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962914.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000962913.1",
"protein_id": "ENSP00000632972.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 552,
"cds_start": 871,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962913.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000962915.1",
"protein_id": "ENSP00000632974.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 552,
"cds_start": 871,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962915.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001301099.2",
"protein_id": "NP_001288028.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 474,
"cds_start": 871,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301099.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001370223.1",
"protein_id": "NP_001357152.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 474,
"cds_start": 871,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370223.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_014155.5",
"protein_id": "NP_054874.3",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 871,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014155.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_001370221.1",
"protein_id": "NP_001357150.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 435,
"cds_start": 871,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370221.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"transcript": "ENST00000529982.5",
"protein_id": "ENSP00000432558.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 327,
"cds_start": 430,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529982.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000528448.2",
"protein_id": "ENSP00000435413.2",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 178,
"cds_start": 109,
"cds_end": null,
"cds_length": 538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528448.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "XM_047426841.1",
"protein_id": "XP_047282797.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 616,
"cds_start": 871,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426841.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "XM_047426842.1",
"protein_id": "XP_047282798.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 616,
"cds_start": 871,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426842.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "XM_006718825.5",
"protein_id": "XP_006718888.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 599,
"cds_start": 871,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
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}