← Back to variant description
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: 1-55091867-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55091867&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 55091867,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_015306.3",
"consequences": [
{
"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": 68,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6554+156A>G",
"hgvs_p": null,
"transcript": "NM_015306.3",
"protein_id": "NP_056121.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2620,
"cds_start": null,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294383.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015306.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6554+156A>G",
"hgvs_p": null,
"transcript": "ENST00000294383.7",
"protein_id": "ENSP00000294383.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2620,
"cds_start": null,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015306.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294383.7"
},
{
"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": 68,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6551+156A>G",
"hgvs_p": null,
"transcript": "ENST00000927917.1",
"protein_id": "ENSP00000597976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2619,
"cds_start": null,
"cds_end": null,
"cds_length": 7860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927917.1"
},
{
"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": 68,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6554+156A>G",
"hgvs_p": null,
"transcript": "ENST00000484447.6",
"protein_id": "ENSP00000489026.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 2618,
"cds_start": null,
"cds_end": null,
"cds_length": 7857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484447.6"
},
{
"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": 67,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6515+156A>G",
"hgvs_p": null,
"transcript": "ENST00000927918.1",
"protein_id": "ENSP00000597977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2607,
"cds_start": null,
"cds_end": null,
"cds_length": 7824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927918.1"
},
{
"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": 69,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6614+156A>G",
"hgvs_p": null,
"transcript": "XM_017000831.2",
"protein_id": "XP_016856320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2640,
"cds_start": null,
"cds_end": null,
"cds_length": 7923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000831.2"
},
{
"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": 69,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6611+156A>G",
"hgvs_p": null,
"transcript": "XM_017000832.2",
"protein_id": "XP_016856321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2639,
"cds_start": null,
"cds_end": null,
"cds_length": 7920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000832.2"
},
{
"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": 68,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.6551+156A>G",
"hgvs_p": null,
"transcript": "XM_047416524.1",
"protein_id": "XP_047272480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2619,
"cds_start": null,
"cds_end": null,
"cds_length": 7860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416524.1"
},
{
"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": 55,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "c.4769+156A>G",
"hgvs_p": null,
"transcript": "XM_005270690.4",
"protein_id": "XP_005270747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2025,
"cds_start": null,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"hgvs_c": "n.6865+156A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737080.2"
}
],
"gene_symbol": "USP24",
"gene_hgnc_id": 12623,
"dbsnp": "rs667353",
"frequency_reference_population": 0.52959514,
"hom_count_reference_population": 23501,
"allele_count_reference_population": 80526,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.529595,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 80526,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 23501,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.202,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015306.3",
"gene_symbol": "USP24",
"hgnc_id": 12623,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.6554+156A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}