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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: 12-62388687-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62388687&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "USP15",
"hgnc_id": 12613,
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001252078.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 34074,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 981,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14971,
"cdna_start": null,
"cds_end": null,
"cds_length": 2946,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001252078.2",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280377.10",
"protein_coding": true,
"protein_id": "NP_001239007.1",
"strand": true,
"transcript": "NM_001252078.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 981,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14971,
"cdna_start": null,
"cds_end": null,
"cds_length": 2946,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280377.10",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001252078.2",
"protein_coding": true,
"protein_id": "ENSP00000280377.5",
"strand": true,
"transcript": "ENST00000280377.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 952,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14950,
"cdna_start": null,
"cds_end": null,
"cds_length": 2859,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353364.7",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1387-744G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258123.4",
"strand": true,
"transcript": "ENST00000353364.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957648.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1597-744G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627707.1",
"strand": true,
"transcript": "ENST00000957648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957645.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627704.1",
"strand": true,
"transcript": "ENST00000957645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 952,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14884,
"cdna_start": null,
"cds_end": null,
"cds_length": 2859,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006313.3",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1387-744G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006304.1",
"strand": true,
"transcript": "NM_006313.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 944,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": null,
"cds_end": null,
"cds_length": 2835,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913305.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1387-744G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583364.1",
"strand": true,
"transcript": "ENST00000913305.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 938,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": null,
"cds_end": null,
"cds_length": 2817,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886868.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556927.1",
"strand": true,
"transcript": "ENST00000886868.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957647.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1300-744G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627706.1",
"strand": true,
"transcript": "ENST00000957647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 897,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": null,
"cds_end": null,
"cds_length": 2694,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957650.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1474-744G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627709.1",
"strand": true,
"transcript": "ENST00000957650.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886869.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1213-744G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556928.1",
"strand": true,
"transcript": "ENST00000886869.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000886867.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1201-744G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556926.1",
"strand": true,
"transcript": "ENST00000886867.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000957649.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627708.1",
"strand": true,
"transcript": "ENST00000957649.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "NM_001351159.2",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.1111-744G>A",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338088.1",
"strand": true,
"transcript": "NM_001351159.2",
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},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000957646.1",
"gene_hgnc_id": 12613,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627705.1",
"strand": true,
"transcript": "ENST00000957646.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "NM_001351160.2",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.727-744G>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338089.1",
"strand": true,
"transcript": "NM_001351160.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001351163.2",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.475-744G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338092.1",
"strand": true,
"transcript": "NM_001351163.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001351164.2",
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},
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"consequences": [
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],
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"feature": "NM_001351165.2",
"gene_hgnc_id": 12613,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338094.1",
"strand": true,
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "NM_001351166.2",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "c.475-744G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338095.1",
"strand": true,
"transcript": "NM_001351166.2",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549268.1",
"gene_hgnc_id": 12613,
"gene_symbol": "USP15",
"hgvs_c": "n.832-744G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000549268.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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