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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: 12-32796233-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32796233&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32796233,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000340811.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2233A>G",
"hgvs_p": "p.Ile745Val",
"transcript": "NM_001005242.3",
"protein_id": "NP_001005242.2",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 837,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": "ENST00000340811.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2233A>G",
"hgvs_p": "p.Ile745Val",
"transcript": "ENST00000340811.9",
"protein_id": "ENSP00000342800.5",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 837,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": "NM_001005242.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Ile789Val",
"transcript": "ENST00000070846.11",
"protein_id": "ENSP00000070846.6",
"transcript_support_level": 1,
"aa_start": 789,
"aa_end": null,
"aa_length": 881,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Ile789Val",
"transcript": "NM_004572.4",
"protein_id": "NP_004563.2",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 881,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2068A>G",
"hgvs_p": "p.Ile690Val",
"transcript": "NM_001407156.1",
"protein_id": "NP_001394085.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 782,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.1906A>G",
"hgvs_p": "p.Ile636Val",
"transcript": "NM_001407158.1",
"protein_id": "NP_001394087.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 728,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.1906A>G",
"hgvs_p": "p.Ile636Val",
"transcript": "NM_001407159.1",
"protein_id": "NP_001394088.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 728,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Ile126Val",
"transcript": "ENST00000549461.3",
"protein_id": "ENSP00000519092.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 218,
"cds_start": 376,
"cds_end": null,
"cds_length": 657,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Ile126Val",
"transcript": "ENST00000700558.2",
"protein_id": "ENSP00000519093.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 218,
"cds_start": 376,
"cds_end": null,
"cds_length": 657,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "n.920A>G",
"hgvs_p": null,
"transcript": "ENST00000546498.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "n.736A>G",
"hgvs_p": null,
"transcript": "ENST00000700555.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "n.325A>G",
"hgvs_p": null,
"transcript": "ENST00000700557.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "n.1448A>G",
"hgvs_p": null,
"transcript": "ENST00000700560.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "n.1574A>G",
"hgvs_p": null,
"transcript": "ENST00000700561.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2168-3502A>G",
"hgvs_p": null,
"transcript": "NM_001407155.1",
"protein_id": "NP_001394084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.2168-3502A>G",
"hgvs_p": null,
"transcript": "ENST00000700559.2",
"protein_id": "ENSP00000515065.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"hgvs_c": "c.1841-3502A>G",
"hgvs_p": null,
"transcript": "NM_001407160.1",
"protein_id": "NP_001394089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PKP2",
"gene_hgnc_id": 9024,
"dbsnp": "rs551045165",
"frequency_reference_population": 0.0002109778,
"hom_count_reference_population": 0,
"allele_count_reference_population": 340,
"gnomad_exomes_af": 0.000223966,
"gnomad_genomes_af": 0.0000858063,
"gnomad_exomes_ac": 327,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007276564836502075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.509,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340811.9",
"gene_symbol": "PKP2",
"hgnc_id": 9024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2233A>G",
"hgvs_p": "p.Ile745Val"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 9,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Primary dilated cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:7",
"phenotype_combined": "not specified|not provided|Cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}