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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: 3-131228591-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=131228591&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 131228591,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000383366.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_024800.5",
"protein_id": "NP_079076.3",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 645,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "ENST00000383366.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "ENST00000383366.9",
"protein_id": "ENSP00000372857.4",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 645,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "NM_024800.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "ENST00000510688.5",
"protein_id": "ENSP00000423458.1",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 599,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Glu530Gly",
"transcript": "NM_001321221.2",
"protein_id": "NP_001308150.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 687,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Glu530Gly",
"transcript": "NM_001353022.2",
"protein_id": "NP_001339951.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 687,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_001321220.2",
"protein_id": "NP_001308149.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 645,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_001353023.2",
"protein_id": "NP_001339952.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 645,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "ENST00000508196.5",
"protein_id": "ENSP00000421851.1",
"transcript_support_level": 2,
"aa_start": 488,
"aa_end": null,
"aa_length": 645,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Glu487Gly",
"transcript": "NM_001353024.2",
"protein_id": "NP_001339953.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 644,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Glu487Gly",
"transcript": "NM_001353025.2",
"protein_id": "NP_001339954.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 644,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Glu530Gly",
"transcript": "NM_001353026.2",
"protein_id": "NP_001339955.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 641,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Glu452Gly",
"transcript": "NM_001353027.2",
"protein_id": "NP_001339956.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 609,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_001146003.2",
"protein_id": "NP_001139475.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 599,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_001353028.2",
"protein_id": "NP_001339957.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 599,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Glu488Gly",
"transcript": "NM_001353029.2",
"protein_id": "NP_001339958.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 599,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Glu452Gly",
"transcript": "NM_001353030.2",
"protein_id": "NP_001339959.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 563,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Glu452Gly",
"transcript": "NM_001353031.2",
"protein_id": "NP_001339960.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 563,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Glu383Gly",
"transcript": "NM_001321222.2",
"protein_id": "NP_001308151.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 540,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Glu383Gly",
"transcript": "NM_001353032.2",
"protein_id": "NP_001339961.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 540,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1447,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Glu383Gly",
"transcript": "ENST00000510769.5",
"protein_id": "ENSP00000421549.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 540,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.Glu382Gly",
"transcript": "NM_001353033.2",
"protein_id": "NP_001339962.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 539,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.Glu382Gly",
"transcript": "NM_001353034.2",
"protein_id": "NP_001339963.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 539,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.1271A>G",
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}
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}