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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: 13-20189313-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20189313&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20189313,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004004.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "NM_004004.6",
"protein_id": "NP_003995.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": "ENST00000382848.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004004.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000382848.5",
"protein_id": "ENSP00000372299.4",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": "NM_004004.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382848.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000382844.2",
"protein_id": "ENSP00000372295.1",
"transcript_support_level": 6,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382844.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906230.1",
"protein_id": "ENSP00000576289.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906230.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906231.1",
"protein_id": "ENSP00000576290.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906231.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906232.1",
"protein_id": "ENSP00000576291.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906232.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906233.1",
"protein_id": "ENSP00000576292.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906233.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906234.1",
"protein_id": "ENSP00000576293.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906234.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906235.1",
"protein_id": "ENSP00000576294.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906235.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000906236.1",
"protein_id": "ENSP00000576295.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906236.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "ENST00000957350.1",
"protein_id": "ENSP00000627409.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957350.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro",
"transcript": "XM_011535049.3",
"protein_id": "XP_011533351.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 226,
"cds_start": 269,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535049.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296095",
"gene_hgnc_id": null,
"hgvs_c": "n.232-3733T>C",
"hgvs_p": null,
"transcript": "ENST00000736390.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000736390.1"
}
],
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"dbsnp": "rs80338945",
"frequency_reference_population": 0.00066670217,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1076,
"gnomad_exomes_af": 0.000669739,
"gnomad_genomes_af": 0.000637529,
"gnomad_exomes_ac": 979,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8342571258544922,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.981,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP2,PP3,PP5_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 1,
"pathogenic_score": 16,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP3",
"PP5_Very_Strong",
"BS2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "NM_004004.6",
"gene_symbol": "GJB2",
"hgnc_id": 4284,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Leu90Pro"
},
{
"score": 9,
"benign_score": 4,
"pathogenic_score": 13,
"criteria": [
"PS3",
"PP3",
"PP5_Very_Strong",
"BS2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000736390.1",
"gene_symbol": "ENSG00000296095",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.232-3733T>C",
"hgvs_p": null
}
],
"clinvar_disease": " deafness AND leukonychia syndrome, hystrix-like, with hearing loss,7 conditions,8 conditions,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Deafness,GJB2-related disorder,Hearing impairment,Hearing loss,Ichthyosis,Knuckle pads,Mutilating keratoderma,Nonsyndromic genetic hearing loss,Palmoplantar keratoderma-deafness syndrome,Rare genetic deafness,See cases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:40 US:1 O:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Nonsyndromic genetic hearing loss|not provided|Autosomal dominant nonsyndromic hearing loss 3A|Rare genetic deafness|8 conditions|See cases|Deafness|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A|7 conditions|Ichthyosis, hystrix-like, with hearing loss|GJB2-related disorder|Mutilating keratoderma;Palmoplantar keratoderma-deafness syndrome;Knuckle pads, deafness AND leukonychia syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}