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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: 1-55079593-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55079593&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 55079593,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015306.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7145A>G",
"hgvs_p": "p.His2382Arg",
"transcript": "NM_015306.3",
"protein_id": "NP_056121.2",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7145,
"cds_end": null,
"cds_length": 7863,
"cdna_start": 7396,
"cdna_end": null,
"cdna_length": 10800,
"mane_select": "ENST00000294383.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015306.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7145A>G",
"hgvs_p": "p.His2382Arg",
"transcript": "ENST00000294383.7",
"protein_id": "ENSP00000294383.5",
"transcript_support_level": 5,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7145,
"cds_end": null,
"cds_length": 7863,
"cdna_start": 7396,
"cdna_end": null,
"cdna_length": 10800,
"mane_select": "NM_015306.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294383.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7142A>G",
"hgvs_p": "p.His2381Arg",
"transcript": "ENST00000927917.1",
"protein_id": "ENSP00000597976.1",
"transcript_support_level": null,
"aa_start": 2381,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7142,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 7782,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927917.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7145A>G",
"hgvs_p": "p.His2382Arg",
"transcript": "ENST00000484447.6",
"protein_id": "ENSP00000489026.2",
"transcript_support_level": 3,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7145,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 7410,
"cdna_end": null,
"cdna_length": 8288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484447.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7106A>G",
"hgvs_p": "p.His2369Arg",
"transcript": "ENST00000927918.1",
"protein_id": "ENSP00000597977.1",
"transcript_support_level": null,
"aa_start": 2369,
"aa_end": null,
"aa_length": 2607,
"cds_start": 7106,
"cds_end": null,
"cds_length": 7824,
"cdna_start": 7354,
"cdna_end": null,
"cdna_length": 8575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927918.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7205A>G",
"hgvs_p": "p.His2402Arg",
"transcript": "XM_017000831.2",
"protein_id": "XP_016856320.1",
"transcript_support_level": null,
"aa_start": 2402,
"aa_end": null,
"aa_length": 2640,
"cds_start": 7205,
"cds_end": null,
"cds_length": 7923,
"cdna_start": 7456,
"cdna_end": null,
"cdna_length": 10860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000831.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7202A>G",
"hgvs_p": "p.His2401Arg",
"transcript": "XM_017000832.2",
"protein_id": "XP_016856321.1",
"transcript_support_level": null,
"aa_start": 2401,
"aa_end": null,
"aa_length": 2639,
"cds_start": 7202,
"cds_end": null,
"cds_length": 7920,
"cdna_start": 7453,
"cdna_end": null,
"cdna_length": 10857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000832.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.7142A>G",
"hgvs_p": "p.His2381Arg",
"transcript": "XM_047416524.1",
"protein_id": "XP_047272480.1",
"transcript_support_level": null,
"aa_start": 2381,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7142,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 7393,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416524.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.5360A>G",
"hgvs_p": "p.His1787Arg",
"transcript": "XM_005270690.4",
"protein_id": "XP_005270747.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6078,
"cdna_start": 5441,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270690.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "n.7456A>G",
"hgvs_p": null,
"transcript": "XR_001737080.2",
"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": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737080.2"
}
],
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"dbsnp": "rs1369231737",
"frequency_reference_population": 0.000003829173,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000353409,
"gnomad_genomes_af": 0.00000657341,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4196273982524872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.2307,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.225,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015306.3",
"gene_symbol": "USP24",
"hgnc_id": 12623,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.7145A>G",
"hgvs_p": "p.His2382Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}