← 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: 13-98460426-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98460426&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 98460426,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000539966.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Pro356Pro",
"transcript": "NM_001032296.4",
"protein_id": "NP_001027467.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 431,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": "ENST00000539966.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Pro356Pro",
"transcript": "ENST00000539966.6",
"protein_id": "ENSP00000442539.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 431,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": "NM_001032296.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Pro368Pro",
"transcript": "ENST00000376547.7",
"protein_id": "ENSP00000365730.3",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 443,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Pro273Pro",
"transcript": "ENST00000444574.1",
"protein_id": "ENSP00000402764.1",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 368,
"cds_start": 819,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Pro368Pro",
"transcript": "NM_003576.5",
"protein_id": "NP_003567.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 443,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 9593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "NM_001286649.2",
"protein_id": "NP_001273578.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 412,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 9548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "ENST00000397517.6",
"protein_id": "ENSP00000380651.3",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 412,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.234G>A",
"hgvs_p": "p.Pro78Pro",
"transcript": "ENST00000418038.5",
"protein_id": "ENSP00000402810.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 142,
"cds_start": 234,
"cds_end": null,
"cds_length": 429,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"hgvs_c": "c.456+1348G>A",
"hgvs_p": null,
"transcript": "ENST00000376554.8",
"protein_id": "ENSP00000365737.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STK24",
"gene_hgnc_id": 11403,
"dbsnp": "rs4771305",
"frequency_reference_population": 0.9997688,
"hom_count_reference_population": 806353,
"allele_count_reference_population": 1613079,
"gnomad_exomes_af": 0.99988,
"gnomad_genomes_af": 0.998707,
"gnomad_exomes_ac": 1460960,
"gnomad_genomes_ac": 152119,
"gnomad_exomes_homalt": 730392,
"gnomad_genomes_homalt": 75961,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1770000010728836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.708,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000539966.6",
"gene_symbol": "STK24",
"hgnc_id": 11403,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Pro356Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}