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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: 17-75957555-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75957555&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75957555,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000293217.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148*",
"transcript": "NM_004035.7",
"protein_id": "NP_004026.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 660,
"cds_start": 442,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": "ENST00000293217.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148*",
"transcript": "ENST00000293217.10",
"protein_id": "ENSP00000293217.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 660,
"cds_start": 442,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": "NM_004035.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148*",
"transcript": "ENST00000301608.9",
"protein_id": "ENSP00000301608.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 660,
"cds_start": 442,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148*",
"transcript": "NM_007292.6",
"protein_id": "NP_009223.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 660,
"cds_start": 442,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110*",
"transcript": "NM_001185039.2",
"protein_id": "NP_001171968.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 622,
"cds_start": 328,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80*",
"transcript": "XM_047436182.1",
"protein_id": "XP_047292138.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 592,
"cds_start": 238,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12*",
"transcript": "XM_047436183.1",
"protein_id": "XP_047292139.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 524,
"cds_start": 34,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*400C>T",
"hgvs_p": null,
"transcript": "ENST00000572047.5",
"protein_id": "ENSP00000459936.1",
"transcript_support_level": 2,
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.603C>T",
"hgvs_p": null,
"transcript": "ENST00000573078.5",
"protein_id": "ENSP00000458325.1",
"transcript_support_level": 2,
"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": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*239C>T",
"hgvs_p": null,
"transcript": "ENST00000589301.1",
"protein_id": "ENSP00000468435.1",
"transcript_support_level": 4,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.460C>T",
"hgvs_p": null,
"transcript": "ENST00000591857.5",
"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": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*400C>T",
"hgvs_p": null,
"transcript": "ENST00000572047.5",
"protein_id": "ENSP00000459936.1",
"transcript_support_level": 2,
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*239C>T",
"hgvs_p": null,
"transcript": "ENST00000589301.1",
"protein_id": "ENSP00000468435.1",
"transcript_support_level": 4,
"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": 550,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.431-1608C>T",
"hgvs_p": null,
"transcript": "ENST00000588176.5",
"protein_id": "ENSP00000466210.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"dbsnp": "rs118204093",
"frequency_reference_population": 0.000002736768,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273677,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.196,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000293217.10",
"gene_symbol": "ACOX1",
"hgnc_id": 119,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148*"
}
],
"clinvar_disease": "Acyl-CoA oxidase deficiency,Mitchell syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Acyl-CoA oxidase deficiency|not provided|Acyl-CoA oxidase deficiency;Mitchell syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}