← 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: 13-36174733-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36174733&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36174733,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001198910.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH2",
"gene_hgnc_id": 26026,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Val260Leu",
"transcript": "NM_017826.3",
"protein_id": "NP_060296.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 425,
"cds_start": 778,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379881.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017826.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH2",
"gene_hgnc_id": 26026,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Val260Leu",
"transcript": "ENST00000379881.8",
"protein_id": "ENSP00000369210.3",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 425,
"cds_start": 778,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017826.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379881.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC169-SOHLH2",
"gene_hgnc_id": 38866,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000511166.1",
"protein_id": "ENSP00000421868.1",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 502,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511166.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC169-SOHLH2",
"gene_hgnc_id": 38866,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Val337Leu",
"transcript": "NM_001198910.2",
"protein_id": "NP_001185839.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 502,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198910.2"
}
],
"gene_symbol": "CCDC169-SOHLH2",
"gene_hgnc_id": 38866,
"dbsnp": "rs34933583",
"frequency_reference_population": 6.878951e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87895e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04505884647369385,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.1821,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.468,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001198910.2",
"gene_symbol": "CCDC169-SOHLH2",
"hgnc_id": 38866,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Val337Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017826.3",
"gene_symbol": "SOHLH2",
"hgnc_id": 26026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Val260Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}