← 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: 10-30027143-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=30027143&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 30027143,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375377.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Ser1002Ile",
"transcript": "NM_020848.4",
"protein_id": "NP_065899.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3005,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 9324,
"mane_select": "ENST00000375377.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Ser1002Ile",
"transcript": "ENST00000375377.2",
"protein_id": "ENSP00000364526.1",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3005,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 9324,
"mane_select": "NM_020848.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Ser1002Ile",
"transcript": "NM_001350022.2",
"protein_id": "NP_001336951.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3005,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3314,
"cdna_end": null,
"cdna_length": 9469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"hgvs_c": "c.2591G>T",
"hgvs_p": "p.Ser864Ile",
"transcript": "NM_001350001.2",
"protein_id": "NP_001336930.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 9364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"hgvs_c": "c.2591G>T",
"hgvs_p": "p.Ser864Ile",
"transcript": "NM_001350021.2",
"protein_id": "NP_001336950.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3232,
"cdna_end": null,
"cdna_length": 9387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304527",
"gene_hgnc_id": null,
"hgvs_c": "n.-144C>A",
"hgvs_p": null,
"transcript": "ENST00000804350.1",
"protein_id": null,
"transcript_support_level": null,
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JCAD",
"gene_hgnc_id": 29283,
"dbsnp": "rs3739998",
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04641839861869812,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0836,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.153,
"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": -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": "ENST00000375377.2",
"gene_symbol": "JCAD",
"hgnc_id": 29283,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Ser1002Ile"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000804350.1",
"gene_symbol": "ENSG00000304527",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-144C>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
}