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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: 16-2324393-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2324393&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2324393,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000301732.10",
"consequences": [
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"hgvs_c": "c.447+11C>A",
"hgvs_p": null,
"transcript": "NM_001089.3",
"protein_id": "NP_001080.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1704,
"cds_start": -4,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": "ENST00000301732.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"hgvs_c": "c.447+11C>A",
"hgvs_p": null,
"transcript": "ENST00000301732.10",
"protein_id": "ENSP00000301732.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1704,
"cds_start": -4,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": "NM_001089.3",
"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": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"hgvs_c": "c.447+11C>A",
"hgvs_p": null,
"transcript": "ENST00000382381.7",
"protein_id": "ENSP00000371818.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6446,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"hgvs_c": "c.447+11C>A",
"hgvs_p": null,
"transcript": "ENST00000567910.1",
"protein_id": "ENSP00000454397.1",
"transcript_support_level": 1,
"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": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"hgvs_c": "n.1010+11C>A",
"hgvs_p": null,
"transcript": "ENST00000563623.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCA3",
"gene_hgnc_id": 33,
"dbsnp": "rs117031141",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.188,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301732.10",
"gene_symbol": "ABCA3",
"hgnc_id": 33,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.447+11C>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
}