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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: 15-70667015-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70667015&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70667015,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_018003.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Val1223Val",
"transcript": "NM_018003.4",
"protein_id": "NP_060473.2",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3669,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "ENST00000322954.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Val1223Val",
"transcript": "ENST00000322954.11",
"protein_id": "ENSP00000314556.6",
"transcript_support_level": 1,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3669,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "NM_018003.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3342A>G",
"hgvs_p": "p.Val1114Val",
"transcript": "ENST00000539319.5",
"protein_id": "ENSP00000438667.1",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3630A>G",
"hgvs_p": "p.Val1210Val",
"transcript": "NM_001008224.3",
"protein_id": "NP_001008225.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3630,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3997,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3630A>G",
"hgvs_p": "p.Val1210Val",
"transcript": "ENST00000379983.6",
"protein_id": "ENSP00000369319.2",
"transcript_support_level": 5,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3630,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3624A>G",
"hgvs_p": "p.Val1208Val",
"transcript": "ENST00000560441.5",
"protein_id": "ENSP00000454018.1",
"transcript_support_level": 5,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3624,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3729A>G",
"hgvs_p": "p.Val1243Val",
"transcript": "XM_011521752.4",
"protein_id": "XP_011520054.2",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3729,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3696A>G",
"hgvs_p": "p.Val1232Val",
"transcript": "XM_011521753.3",
"protein_id": "XP_011520055.2",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3696,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 7155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3636A>G",
"hgvs_p": "p.Val1212Val",
"transcript": "XM_017022394.3",
"protein_id": "XP_016877883.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3636,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3787,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3618A>G",
"hgvs_p": "p.Val1206Val",
"transcript": "XM_017022395.2",
"protein_id": "XP_016877884.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3618,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3713,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3597A>G",
"hgvs_p": "p.Val1199Val",
"transcript": "XM_005254529.5",
"protein_id": "XP_005254586.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3597,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Val971Val",
"transcript": "XM_047432783.1",
"protein_id": "XP_047288739.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"dbsnp": "rs147338503",
"frequency_reference_population": 0.00029067785,
"hom_count_reference_population": 4,
"allele_count_reference_population": 469,
"gnomad_exomes_af": 0.000134826,
"gnomad_genomes_af": 0.00178562,
"gnomad_exomes_ac": 197,
"gnomad_genomes_ac": 272,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.918,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018003.4",
"gene_symbol": "UACA",
"hgnc_id": 15947,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Val1223Val"
}
],
"clinvar_disease": "UACA-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "UACA-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}