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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: 11-17089753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17089753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PIK3C2A",
"hgnc_id": 8971,
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_002645.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_score": -9,
"allele_count_reference_population": 270,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "A",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 5250,
"cds_end": null,
"cds_length": 5061,
"cds_start": 5046,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_002645.4",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000691414.1",
"protein_coding": true,
"protein_id": "NP_002636.2",
"strand": false,
"transcript": "NM_002645.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "A",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 5250,
"cds_end": null,
"cds_length": 5061,
"cds_start": 5046,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000691414.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002645.4",
"protein_coding": true,
"protein_id": "ENSP00000509400.1",
"strand": false,
"transcript": "ENST00000691414.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "A",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8227,
"cdna_start": 5046,
"cds_end": null,
"cds_length": 5061,
"cds_start": 5046,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000265970.11",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265970.6",
"strand": false,
"transcript": "ENST00000265970.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531428.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "n.1400+1581G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000531428.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "A",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8497,
"cdna_start": 5319,
"cds_end": null,
"cds_length": 5061,
"cds_start": 5046,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001321378.2",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308307.1",
"strand": false,
"transcript": "NM_001321378.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1653,
"aa_ref": "A",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6647,
"cdna_start": 5143,
"cds_end": null,
"cds_length": 4962,
"cds_start": 4947,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000891469.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4947G>A",
"hgvs_p": "p.Ala1649Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561528.1",
"strand": false,
"transcript": "ENST00000891469.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "A",
"aa_start": 1647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8310,
"cdna_start": 5121,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4941,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000928047.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4941G>A",
"hgvs_p": "p.Ala1647Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598106.1",
"strand": false,
"transcript": "ENST00000928047.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "A",
"aa_start": 1641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6517,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 4938,
"cds_start": 4923,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000891470.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4923G>A",
"hgvs_p": "p.Ala1641Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561529.1",
"strand": false,
"transcript": "ENST00000891470.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1638,
"aa_ref": "A",
"aa_start": 1634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 5093,
"cds_end": null,
"cds_length": 4917,
"cds_start": 4902,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000963734.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4902G>A",
"hgvs_p": "p.Ala1634Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633793.1",
"strand": false,
"transcript": "ENST00000963734.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8260,
"cdna_start": 5082,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4878,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001386870.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Ala1626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373799.1",
"strand": false,
"transcript": "NM_001386870.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6392,
"cdna_start": 5055,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4878,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000891471.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Ala1626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561530.1",
"strand": false,
"transcript": "ENST00000891471.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4878,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000928049.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Ala1626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598108.1",
"strand": false,
"transcript": "ENST00000928049.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "A",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7904,
"cdna_start": 4726,
"cds_end": null,
"cds_length": 4584,
"cds_start": 4569,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000928048.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4569G>A",
"hgvs_p": "p.Ala1523Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598107.1",
"strand": false,
"transcript": "ENST00000928048.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "A",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7298,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 3921,
"cds_start": 3906,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001321380.2",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.3906G>A",
"hgvs_p": "p.Ala1302Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308309.1",
"strand": false,
"transcript": "NM_001321380.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "A",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8523,
"cdna_start": 5345,
"cds_end": null,
"cds_length": 5061,
"cds_start": 5046,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047427127.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Ala1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283083.1",
"strand": false,
"transcript": "XM_047427127.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8329,
"cdna_start": 5151,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4878,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_047427128.1",
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Ala1626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283084.1",
"strand": false,
"transcript": "XM_047427128.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146134726",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0001674778,
"gene_hgnc_id": 8971,
"gene_symbol": "PIK3C2A",
"gnomad_exomes_ac": 260,
"gnomad_exomes_af": 0.000178074,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000657514,
"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": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.05,
"pos": 17089753,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002645.4"
}
]
}