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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: 16-11883080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11883080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11883080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002094.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Ile",
"transcript": "NM_002094.4",
"protein_id": "NP_002085.3",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 637,
"cds_start": 1363,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Ile",
"transcript": "ENST00000434724.7",
"protein_id": "ENSP00000398131.2",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 637,
"cds_start": 1363,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Val454Ile",
"transcript": "ENST00000439887.6",
"protein_id": "ENSP00000408399.2",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 636,
"cds_start": 1360,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Val317Ile",
"transcript": "ENST00000420576.6",
"protein_id": "ENSP00000399539.2",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 499,
"cds_start": 949,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Ile",
"transcript": "ENST00000895134.1",
"protein_id": "ENSP00000565193.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 643,
"cds_start": 1363,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Val454Ile",
"transcript": "NM_001130006.2",
"protein_id": "NP_001123478.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 636,
"cds_start": 1360,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "ENST00000895137.1",
"protein_id": "ENSP00000565196.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 635,
"cds_start": 1357,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Val446Ile",
"transcript": "ENST00000913282.1",
"protein_id": "ENSP00000583341.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 628,
"cds_start": 1336,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Ile",
"transcript": "ENST00000913281.1",
"protein_id": "ENSP00000583340.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 623,
"cds_start": 1321,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Val440Ile",
"transcript": "ENST00000895140.1",
"protein_id": "ENSP00000565199.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 622,
"cds_start": 1318,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Val439Ile",
"transcript": "ENST00000945601.1",
"protein_id": "ENSP00000615660.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 621,
"cds_start": 1315,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Val438Ile",
"transcript": "ENST00000945600.1",
"protein_id": "ENSP00000615659.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 620,
"cds_start": 1312,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Val427Ile",
"transcript": "ENST00000895138.1",
"protein_id": "ENSP00000565197.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 609,
"cds_start": 1279,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Val426Ile",
"transcript": "ENST00000913284.1",
"protein_id": "ENSP00000583343.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 608,
"cds_start": 1276,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Ile",
"transcript": "ENST00000895139.1",
"protein_id": "ENSP00000565198.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 607,
"cds_start": 1363,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Ile",
"transcript": "ENST00000895133.1",
"protein_id": "ENSP00000565192.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 579,
"cds_start": 1363,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Ile",
"transcript": "ENST00000895136.1",
"protein_id": "ENSP00000565195.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 561,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895136.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"transcript": "ENST00000895135.1",
"protein_id": "ENSP00000565194.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 533,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895135.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Val317Ile",
"transcript": "NM_001130007.2",
"protein_id": "NP_001123479.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 499,
"cds_start": 949,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Val317Ile",
"transcript": "ENST00000563468.5",
"protein_id": "ENSP00000454351.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 499,
"cds_start": 949,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Ile",
"transcript": "ENST00000565267.5",
"protein_id": "ENSP00000456057.1",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 474,
"cds_start": 964,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSPT1",
"gene_hgnc_id": 4621,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Val349Ile",
"transcript": "XM_047434033.1",
"protein_id": "XP_047289989.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 531,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
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"BS2"
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}