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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: 16-11896639-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11896639&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11896639,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002094.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "NM_002094.4",
"protein_id": "NP_002085.3",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 637,
"cds_start": 583,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434724.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002094.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000434724.7",
"protein_id": "ENSP00000398131.2",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 637,
"cds_start": 583,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002094.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434724.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Ile194Val",
"transcript": "ENST00000439887.6",
"protein_id": "ENSP00000408399.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 636,
"cds_start": 580,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439887.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "ENST00000420576.6",
"protein_id": "ENSP00000399539.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 499,
"cds_start": 169,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420576.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000895134.1",
"protein_id": "ENSP00000565193.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 643,
"cds_start": 583,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895134.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Ile194Val",
"transcript": "NM_001130006.2",
"protein_id": "NP_001123478.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 636,
"cds_start": 580,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130006.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000895137.1",
"protein_id": "ENSP00000565196.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 635,
"cds_start": 583,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895137.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000913282.1",
"protein_id": "ENSP00000583341.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 628,
"cds_start": 583,
"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": "ENST00000913282.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"transcript": "ENST00000913281.1",
"protein_id": "ENSP00000583340.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 623,
"cds_start": 541,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913281.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Ile180Val",
"transcript": "ENST00000895140.1",
"protein_id": "ENSP00000565199.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 622,
"cds_start": 538,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895140.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000945601.1",
"protein_id": "ENSP00000615660.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 621,
"cds_start": 583,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945601.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Ile194Val",
"transcript": "ENST00000945600.1",
"protein_id": "ENSP00000615659.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 620,
"cds_start": 580,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945600.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000913280.1",
"protein_id": "ENSP00000583339.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 610,
"cds_start": 583,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913280.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val",
"transcript": "ENST00000895138.1",
"protein_id": "ENSP00000565197.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 609,
"cds_start": 499,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895138.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Ile194Val",
"transcript": "ENST00000913283.1",
"protein_id": "ENSP00000583342.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 609,
"cds_start": 580,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913283.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000913284.1",
"protein_id": "ENSP00000583343.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 608,
"cds_start": 496,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913284.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000895139.1",
"protein_id": "ENSP00000565198.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 607,
"cds_start": 583,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895139.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000895133.1",
"protein_id": "ENSP00000565192.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 579,
"cds_start": 583,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895133.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "NM_001130007.2",
"protein_id": "NP_001123479.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 499,
"cds_start": 169,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130007.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "ENST00000563468.5",
"protein_id": "ENSP00000454351.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 499,
"cds_start": 169,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563468.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.184A>G",
"hgvs_p": "p.Ile62Val",
"transcript": "ENST00000565267.5",
"protein_id": "ENSP00000456057.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 474,
"cds_start": 184,
"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": "ENST00000565267.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "ENST00000568849.5",
"protein_id": "ENSP00000456897.1",
"transcript_support_level": 3,
"aa_start": 88,
"aa_end": null,
"aa_length": 198,
"cds_start": 262,
"cds_end": null,
"cds_length": 599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}