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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: 9-114403982-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114403982&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_015404.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "9",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 31,Usher syndrome,Usher syndrome type 2D,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2332,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_015404.4",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362057.4",
"protein_coding": true,
"protein_id": "NP_056219.3",
"strand": false,
"transcript": "NM_015404.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2332,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000362057.4",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015404.4",
"protein_coding": true,
"protein_id": "ENSP00000354623.3",
"strand": false,
"transcript": "ENST00000362057.4",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1183,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000265134.10",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265134.6",
"strand": false,
"transcript": "ENST00000265134.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001173425.2",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166896.1",
"strand": false,
"transcript": "NM_001173425.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866780.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536839.1",
"strand": false,
"transcript": "ENST00000866780.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2203,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929560.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599619.1",
"strand": false,
"transcript": "ENST00000929560.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2122,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674036.9",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501297.5",
"strand": false,
"transcript": "ENST00000674036.9",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2119,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929558.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599617.1",
"strand": false,
"transcript": "ENST00000929558.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "R",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1996,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866781.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536840.1",
"strand": false,
"transcript": "ENST00000866781.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1669,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000929559.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599618.1",
"strand": false,
"transcript": "ENST00000929559.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1666,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000929561.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Arg556*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599620.1",
"strand": false,
"transcript": "ENST00000929561.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1279,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346890.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333819.1",
"strand": false,
"transcript": "NM_001346890.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1183,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001083885.3",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077354.2",
"strand": false,
"transcript": "NM_001083885.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1068,
"cds_start": 676,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000699485.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514396.1",
"strand": false,
"transcript": "ENST00000699485.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2365,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011518485.2",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2365C>T",
"hgvs_p": "p.Arg789*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516787.1",
"strand": false,
"transcript": "XM_011518485.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 917,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2362,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011518486.3",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2362C>T",
"hgvs_p": "p.Arg788*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516788.1",
"strand": false,
"transcript": "XM_011518486.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2332,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047423161.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279117.1",
"strand": false,
"transcript": "XM_047423161.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 2858,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047423163.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279119.1",
"strand": false,
"transcript": "XM_047423163.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 876,
"aa_ref": "R",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2239,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011518487.3",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516789.1",
"strand": false,
"transcript": "XM_011518487.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2206,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047423164.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.Arg736*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279120.1",
"strand": false,
"transcript": "XM_047423164.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2203,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047423165.1",
"gene_hgnc_id": 16361,
"gene_symbol": "WHRN",
"hgvs_c": "c.2203C>T",
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]
}