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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: 12-65328584-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=65328584&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MSRB3",
"hgnc_id": 27375,
"hgvs_c": "c.265T>G",
"hgvs_p": "p.Cys89Gly",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_198080.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3_Strong,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.9698,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "12",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive,Autosomal recessive nonsyndromic hearing loss 74,Hearing loss",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9533466100692749,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 478,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001031679.3",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308259.10",
"protein_coding": true,
"protein_id": "NP_001026849.1",
"strand": true,
"transcript": "NM_001031679.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 478,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000308259.10",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031679.3",
"protein_coding": true,
"protein_id": "ENSP00000312274.6",
"strand": true,
"transcript": "ENST00000308259.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 192,
"aa_ref": "C",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 391,
"cds_end": null,
"cds_length": 579,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000355192.8",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.265T>G",
"hgvs_p": "p.Cys89Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347324.3",
"strand": true,
"transcript": "ENST00000355192.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 583,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000535664.5",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441650.1",
"strand": true,
"transcript": "ENST00000535664.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 192,
"aa_ref": "C",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 351,
"cds_end": null,
"cds_length": 579,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_198080.4",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.265T>G",
"hgvs_p": "p.Cys89Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932346.1",
"strand": true,
"transcript": "NM_198080.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 642,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001193460.2",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180389.1",
"strand": true,
"transcript": "NM_001193460.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 410,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001193461.2",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180390.1",
"strand": true,
"transcript": "NM_001193461.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 380,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000614640.4",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481483.1",
"strand": true,
"transcript": "ENST00000614640.4",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 492,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000642404.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496008.1",
"strand": true,
"transcript": "ENST00000642404.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 973,
"cdna_start": 605,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000642411.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494265.1",
"strand": true,
"transcript": "ENST00000642411.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 721,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646299.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494941.1",
"strand": true,
"transcript": "ENST00000646299.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 474,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909995.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580054.1",
"strand": true,
"transcript": "ENST00000909995.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 604,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945002.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615061.1",
"strand": true,
"transcript": "ENST00000945002.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 496,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945003.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615062.1",
"strand": true,
"transcript": "ENST00000945003.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 769,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945004.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615063.1",
"strand": true,
"transcript": "ENST00000945004.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 185,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 686,
"cds_end": null,
"cds_length": 558,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945005.1",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615064.1",
"strand": true,
"transcript": "ENST00000945005.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 173,
"aa_ref": "C",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 290,
"cds_end": null,
"cds_length": 522,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000541189.5",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.289T>G",
"hgvs_p": "p.Cys97Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440722.1",
"strand": true,
"transcript": "ENST00000541189.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 163,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": 380,
"cds_end": null,
"cds_length": 494,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000535239.5",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445843.1",
"strand": true,
"transcript": "ENST00000535239.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 160,
"aa_ref": "C",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 884,
"cdna_start": 302,
"cds_end": null,
"cds_length": 483,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540804.5",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.265T>G",
"hgvs_p": "p.Cys89Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437623.1",
"strand": true,
"transcript": "ENST00000540804.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 116,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": 419,
"cds_end": null,
"cds_length": 352,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000538045.5",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Cys82Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442620.1",
"strand": true,
"transcript": "ENST00000538045.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 116,
"aa_ref": "C",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": 119,
"cds_end": null,
"cds_length": 351,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000446731.2",
"gene_hgnc_id": 27375,
"gene_symbol": "MSRB3",
"hgvs_c": "c.118T>G",
"hgvs_p": "p.Cys40Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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