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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: 1-55075519-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55075519&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "USP24",
"hgnc_id": 12623,
"hgvs_c": "c.7385T>C",
"hgvs_p": "p.Ile2462Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015306.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 157,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1919,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7055850625038147,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "I",
"aa_start": 2462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10800,
"cdna_start": 7636,
"cds_end": null,
"cds_length": 7863,
"cds_start": 7385,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_015306.3",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7385T>C",
"hgvs_p": "p.Ile2462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294383.7",
"protein_coding": true,
"protein_id": "NP_056121.2",
"strand": false,
"transcript": "NM_015306.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "I",
"aa_start": 2462,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10800,
"cdna_start": 7636,
"cds_end": null,
"cds_length": 7863,
"cds_start": 7385,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000294383.7",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7385T>C",
"hgvs_p": "p.Ile2462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015306.3",
"protein_coding": true,
"protein_id": "ENSP00000294383.5",
"strand": false,
"transcript": "ENST00000294383.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2619,
"aa_ref": "I",
"aa_start": 2461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11186,
"cdna_start": 8022,
"cds_end": null,
"cds_length": 7860,
"cds_start": 7382,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000927917.1",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7382T>C",
"hgvs_p": "p.Ile2461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597976.1",
"strand": false,
"transcript": "ENST00000927917.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2618,
"aa_ref": "I",
"aa_start": 2462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8288,
"cdna_start": 7650,
"cds_end": null,
"cds_length": 7857,
"cds_start": 7385,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000484447.6",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7385T>C",
"hgvs_p": "p.Ile2462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489026.2",
"strand": false,
"transcript": "ENST00000484447.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2607,
"aa_ref": "I",
"aa_start": 2449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8575,
"cdna_start": 7594,
"cds_end": null,
"cds_length": 7824,
"cds_start": 7346,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "ENST00000927918.1",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7346T>C",
"hgvs_p": "p.Ile2449Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597977.1",
"strand": false,
"transcript": "ENST00000927918.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2640,
"aa_ref": "I",
"aa_start": 2482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10860,
"cdna_start": 7696,
"cds_end": null,
"cds_length": 7923,
"cds_start": 7445,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "XM_017000831.2",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7445T>C",
"hgvs_p": "p.Ile2482Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856320.1",
"strand": false,
"transcript": "XM_017000831.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "I",
"aa_start": 2481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10857,
"cdna_start": 7693,
"cds_end": null,
"cds_length": 7920,
"cds_start": 7442,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "XM_017000832.2",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7442T>C",
"hgvs_p": "p.Ile2481Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856321.1",
"strand": false,
"transcript": "XM_017000832.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2619,
"aa_ref": "I",
"aa_start": 2461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10797,
"cdna_start": 7633,
"cds_end": null,
"cds_length": 7860,
"cds_start": 7382,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_047416524.1",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.7382T>C",
"hgvs_p": "p.Ile2461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272480.1",
"strand": false,
"transcript": "XM_047416524.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2025,
"aa_ref": "I",
"aa_start": 1867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8845,
"cdna_start": 5681,
"cds_end": null,
"cds_length": 6078,
"cds_start": 5600,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_005270690.4",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "c.5600T>C",
"hgvs_p": "p.Ile1867Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270747.1",
"strand": false,
"transcript": "XM_005270690.4",
"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": 8427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 69,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "XR_001737080.2",
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"hgvs_c": "n.7696T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001737080.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200850930",
"effect": "missense_variant",
"frequency_reference_population": 0.00009833914,
"gene_hgnc_id": 12623,
"gene_symbol": "USP24",
"gnomad_exomes_ac": 152,
"gnomad_exomes_af": 0.000105241,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328502,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.966,
"pos": 55075519,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.29,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015306.3"
}
]
}