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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: 13-20189154-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20189154&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GJB2",
"hgnc_id": 4284,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_004004.6",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000296095",
"hgnc_id": null,
"hgvs_c": "n.232-3574G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000736390.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9956,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "13",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "7 conditions",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9854469299316406,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 606,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004004.6",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382848.5",
"protein_coding": true,
"protein_id": "NP_003995.2",
"strand": false,
"transcript": "NM_004004.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 606,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000382848.5",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004004.6",
"protein_coding": true,
"protein_id": "ENSP00000372299.4",
"strand": false,
"transcript": "ENST00000382848.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 627,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000382844.2",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372295.1",
"strand": false,
"transcript": "ENST00000382844.2",
"transcript_support_level": 6
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 683,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906230.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576289.1",
"strand": false,
"transcript": "ENST00000906230.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906231.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576290.1",
"strand": false,
"transcript": "ENST00000906231.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 640,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906232.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576291.1",
"strand": false,
"transcript": "ENST00000906232.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906233.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576292.1",
"strand": false,
"transcript": "ENST00000906233.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 522,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906234.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576293.1",
"strand": false,
"transcript": "ENST00000906234.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906235.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576294.1",
"strand": false,
"transcript": "ENST00000906235.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 688,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906236.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576295.1",
"strand": false,
"transcript": "ENST00000906236.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 646,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957350.1",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627409.1",
"strand": false,
"transcript": "ENST00000957350.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 681,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011535049.3",
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533351.1",
"strand": false,
"transcript": "XM_011535049.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000736390.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000296095",
"hgvs_c": "n.232-3574G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000736390.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs104894401",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4284,
"gene_symbol": "GJB2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "7 conditions",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.123,
"pos": 20189154,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.931,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004004.6"
}
]
}