← 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: X-153743494-A-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153743494&ref=A&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153743494,
"ref": "A",
"alt": "ACG",
"effect": "frameshift_variant",
"transcript": "ENST00000218104.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.1998_1999insGC",
"hgvs_p": "p.His667fs",
"transcript": "NM_000033.4",
"protein_id": "NP_000024.2",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 745,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": "ENST00000218104.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "A?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.1998_1999insGC",
"hgvs_p": "p.His667fs",
"transcript": "ENST00000218104.6",
"protein_id": "ENSP00000218104.3",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 745,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": "NM_000033.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.2298_2299insGC",
"hgvs_p": "p.His767fs",
"transcript": "NM_001440747.1",
"protein_id": "NP_001427676.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 845,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 3969,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLXNB3-AS1",
"gene_hgnc_id": 40454,
"hgvs_c": "n.72-4917_72-4916insCG",
"hgvs_p": null,
"transcript": "ENST00000434284.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 914,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLXNB3-AS1",
"gene_hgnc_id": 40454,
"hgvs_c": "n.90-4917_90-4916insCG",
"hgvs_p": null,
"transcript": "NR_199693.1",
"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": 3816,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLXNB3-AS1",
"gene_hgnc_id": 40454,
"hgvs_c": "n.198-4917_198-4916insCG",
"hgvs_p": null,
"transcript": "NR_199694.1",
"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": 3924,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLXNB3-AS1",
"gene_hgnc_id": 40454,
"hgvs_c": "n.309-4917_309-4916insCG",
"hgvs_p": null,
"transcript": "NR_199695.1",
"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": 4035,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLXNB3-AS1",
"gene_hgnc_id": 40454,
"hgvs_c": "n.230-4917_230-4916insCG",
"hgvs_p": null,
"transcript": "NR_199696.1",
"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": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"dbsnp": "rs1557055392",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.043,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000218104.6",
"gene_symbol": "ABCD1",
"hgnc_id": 61,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1998_1999insGC",
"hgvs_p": "p.His667fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434284.1",
"gene_symbol": "PLXNB3-AS1",
"hgnc_id": 40454,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.72-4917_72-4916insCG",
"hgvs_p": null
}
],
"clinvar_disease": "Adrenoleukodystrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Adrenoleukodystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}