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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: 1-16030006-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16030006&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16030006,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004070.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "NM_004070.4",
"protein_id": "NP_004061.3",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 687,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": "ENST00000331433.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004070.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000331433.5",
"protein_id": "ENSP00000332771.4",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 687,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": "NM_004070.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331433.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000375692.5",
"protein_id": "ENSP00000364844.1",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375692.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Ala460Thr",
"transcript": "ENST00000861487.1",
"protein_id": "ENSP00000531546.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 700,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861487.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Ala460Thr",
"transcript": "ENST00000861485.1",
"protein_id": "ENSP00000531544.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 699,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861485.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "NM_001042704.2",
"protein_id": "NP_001036169.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042704.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861477.1",
"protein_id": "ENSP00000531536.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861477.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861482.1",
"protein_id": "ENSP00000531541.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861482.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000956816.1",
"protein_id": "ENSP00000626875.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956816.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000956817.1",
"protein_id": "ENSP00000626876.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956817.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000956818.1",
"protein_id": "ENSP00000626877.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 686,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956818.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861499.1",
"protein_id": "ENSP00000531558.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 684,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861499.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861500.1",
"protein_id": "ENSP00000531559.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 683,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861500.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "ENST00000861494.1",
"protein_id": "ENSP00000531553.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 678,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861494.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "ENST00000861486.1",
"protein_id": "ENSP00000531545.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 677,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861486.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000861478.1",
"protein_id": "ENSP00000531537.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 668,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861478.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000861490.1",
"protein_id": "ENSP00000531549.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 667,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861490.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861488.1",
"protein_id": "ENSP00000531547.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 658,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861488.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000861489.1",
"protein_id": "ENSP00000531548.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 657,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861489.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"transcript": "ENST00000861479.1",
"protein_id": "ENSP00000531538.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 655,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861479.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"transcript": "ENST00000861480.1",
"protein_id": "ENSP00000531539.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 655,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861480.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"transcript": "ENST00000861484.1",
"protein_id": "ENSP00000531543.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
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{
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"phenotype_combined": "not provided|Bartter disease type 4B|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}