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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: 11-20044048-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=20044048&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 20044048,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001244963.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "NM_145117.5",
"protein_id": "NP_660093.2",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 2429,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349880.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145117.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "ENST00000349880.9",
"protein_id": "ENSP00000309577.6",
"transcript_support_level": 1,
"aa_start": 992,
"aa_end": null,
"aa_length": 2429,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145117.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349880.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Ser928Leu",
"transcript": "ENST00000360655.8",
"protein_id": "ENSP00000353871.4",
"transcript_support_level": 1,
"aa_start": 928,
"aa_end": null,
"aa_length": 2365,
"cds_start": 2783,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360655.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "NM_001244963.2",
"protein_id": "NP_001231892.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2488,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244963.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "ENST00000396087.7",
"protein_id": "ENSP00000379396.3",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2488,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396087.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "NM_182964.6",
"protein_id": "NP_892009.3",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 2432,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182964.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "ENST00000396085.6",
"protein_id": "ENSP00000379394.1",
"transcript_support_level": 5,
"aa_start": 992,
"aa_end": null,
"aa_length": 2432,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396085.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Ser928Leu",
"transcript": "NM_001111018.2",
"protein_id": "NP_001104488.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 2365,
"cds_start": 2783,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111018.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Leu",
"transcript": "NM_001111019.3",
"protein_id": "NP_001104489.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1493,
"cds_start": 233,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111019.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Leu",
"transcript": "ENST00000533917.5",
"protein_id": "ENSP00000437316.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 1493,
"cds_start": 233,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533917.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Leu",
"transcript": "ENST00000525322.5",
"protein_id": "ENSP00000437136.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 814,
"cds_start": 233,
"cds_end": null,
"cds_length": 2447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525322.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Leu",
"transcript": "ENST00000530408.1",
"protein_id": "ENSP00000431276.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 159,
"cds_start": 233,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530408.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_011520444.4",
"protein_id": "XP_011518746.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2485,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520444.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_011520445.4",
"protein_id": "XP_011518747.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2466,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520445.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "XM_006718364.5",
"protein_id": "XP_006718427.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 2465,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718364.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_047427809.1",
"protein_id": "XP_047283765.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2463,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427809.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Ser992Leu",
"transcript": "XM_047427810.1",
"protein_id": "XP_047283766.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 2462,
"cds_start": 2975,
"cds_end": null,
"cds_length": 7389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427810.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_006718365.5",
"protein_id": "XP_006718428.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2455,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718365.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_011520446.4",
"protein_id": "XP_011518748.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2452,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520446.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_011520447.4",
"protein_id": "XP_011518749.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2451,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520447.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ser1015Leu",
"transcript": "XM_047427811.1",
"protein_id": "XP_047283767.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2448,
"cds_start": 3044,
"cds_end": null,
"cds_length": 7347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427811.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.2915C>T",
"hgvs_p": "p.Ser972Leu",
"transcript": "XM_011520448.4",
"protein_id": "XP_011518750.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 2445,
"cds_start": 2915,
"cds_end": null,
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}