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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: 17-61482983-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61482983&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61482983,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000644296.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1115delC",
"hgvs_p": "p.Pro372fs",
"transcript": "NM_001321120.2",
"protein_id": "NP_001308049.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 546,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": "ENST00000644296.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1115delC",
"hgvs_p": "p.Pro372fs",
"transcript": "ENST00000644296.1",
"protein_id": "ENSP00000495986.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 546,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": "NM_001321120.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1112delC",
"hgvs_p": "p.Pro371fs",
"transcript": "ENST00000240335.1",
"protein_id": "ENSP00000240335.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 545,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "n.874delC",
"hgvs_p": null,
"transcript": "ENST00000589449.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1115delC",
"hgvs_p": "p.Pro372fs",
"transcript": "ENST00000642491.1",
"protein_id": "ENSP00000495714.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 546,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1112delC",
"hgvs_p": "p.Pro371fs",
"transcript": "NM_018488.3",
"protein_id": "NP_060958.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 545,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1304delC",
"hgvs_p": "p.Pro435fs",
"transcript": "XM_011525490.3",
"protein_id": "XP_011523792.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 609,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"hgvs_c": "c.1301delC",
"hgvs_p": "p.Pro434fs",
"transcript": "XM_011525491.3",
"protein_id": "XP_011523793.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 608,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX4",
"gene_hgnc_id": 11603,
"dbsnp": "rs754897911",
"frequency_reference_population": 0.00000205227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205227,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.568,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644296.1",
"gene_symbol": "TBX4",
"hgnc_id": 11603,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1115delC",
"hgvs_p": "p.Pro372fs"
}
],
"clinvar_disease": " 1, primary,Pulmonary arterial hypertension associated with congenital heart disease,Pulmonary hypertension,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Pulmonary arterial hypertension associated with congenital heart disease|Pulmonary hypertension, primary, 1|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}