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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: 15-75892399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75892399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75892399,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000267938.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.1029+1385C>T",
"hgvs_p": null,
"transcript": "NM_173469.4",
"protein_id": "NP_775740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": "ENST00000267938.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.1029+1385C>T",
"hgvs_p": null,
"transcript": "ENST00000267938.9",
"protein_id": "ENSP00000267938.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": "NM_173469.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.540-7028C>T",
"hgvs_p": null,
"transcript": "ENST00000426727.6",
"protein_id": "ENSP00000400960.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.981+1385C>T",
"hgvs_p": null,
"transcript": "NM_001145335.1",
"protein_id": "NP_001138807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.981+1385C>T",
"hgvs_p": null,
"transcript": "ENST00000561851.5",
"protein_id": "ENSP00000456229.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.924+1385C>T",
"hgvs_p": null,
"transcript": "NM_001284382.2",
"protein_id": "NP_001271311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.924+1385C>T",
"hgvs_p": null,
"transcript": "ENST00000569423.5",
"protein_id": "ENSP00000456324.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "n.342-4596C>T",
"hgvs_p": null,
"transcript": "ENST00000561723.5",
"protein_id": "ENSP00000458006.1",
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "n.470+1385C>T",
"hgvs_p": null,
"transcript": "ENST00000563966.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "n.261-4596C>T",
"hgvs_p": null,
"transcript": "ENST00000567921.1",
"protein_id": "ENSP00000454742.1",
"transcript_support_level": 3,
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308033",
"gene_hgnc_id": null,
"hgvs_c": "n.153+10040G>A",
"hgvs_p": null,
"transcript": "ENST00000830572.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 320,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.876+1385C>T",
"hgvs_p": null,
"transcript": "XM_047433346.1",
"protein_id": "XP_047289302.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 975,
"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.885-7028C>T",
"hgvs_p": null,
"transcript": "XM_005254787.3",
"protein_id": "XP_005254844.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.837-7028C>T",
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"transcript": "XM_017022726.2",
"protein_id": "XP_016878215.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.792+1385C>T",
"hgvs_p": null,
"transcript": "XM_005254788.3",
"protein_id": "XP_005254845.1",
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.744+1385C>T",
"hgvs_p": null,
"transcript": "XM_047433347.1",
"protein_id": "XP_047289303.1",
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},
{
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],
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.780-7028C>T",
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"transcript": "XM_017022727.3",
"protein_id": "XP_016878216.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.687+1385C>T",
"hgvs_p": null,
"transcript": "XM_017022728.3",
"protein_id": "XP_016878217.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.648-7028C>T",
"hgvs_p": null,
"transcript": "XM_006720770.3",
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},
{
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"hgvs_c": "c.543-7028C>T",
"hgvs_p": null,
"transcript": "XM_047433350.1",
"protein_id": "XP_047289306.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 200,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "UBE2Q2",
"gene_hgnc_id": 19248,
"dbsnp": "rs335711",
"frequency_reference_population": 0.19750284,
"hom_count_reference_population": 3350,
"allele_count_reference_population": 30007,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.197503,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 30007,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3350,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.021,
"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": "ENST00000267938.9",
"gene_symbol": "UBE2Q2",
"hgnc_id": 19248,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1029+1385C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000830572.1",
"gene_symbol": "ENSG00000308033",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153+10040G>A",
"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
}