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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: 12-109124475-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109124475&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109124475,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000338432.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+7771G>T",
"hgvs_p": null,
"transcript": "NM_001093.4",
"protein_id": "NP_001084.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9368,
"mane_select": "ENST00000338432.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+7771G>T",
"hgvs_p": null,
"transcript": "ENST00000338432.12",
"protein_id": "ENSP00000341044.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9368,
"mane_select": "NM_001093.4",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105369974",
"gene_hgnc_id": null,
"hgvs_c": "n.3322C>A",
"hgvs_p": null,
"transcript": "XR_945332.3",
"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": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "NM_001412734.1",
"protein_id": "NP_001399663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.26+11060G>T",
"hgvs_p": null,
"transcript": "NM_001412737.1",
"protein_id": "NP_001399666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2249,
"cds_start": -4,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.775-1470G>T",
"hgvs_p": null,
"transcript": "ENST00000699563.1",
"protein_id": "ENSP00000514437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256139",
"gene_hgnc_id": null,
"hgvs_c": "n.577-786G>T",
"hgvs_p": null,
"transcript": "ENST00000541704.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "XM_011538263.4",
"protein_id": "XP_011536565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2395,
"cds_start": -4,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.26+11060G>T",
"hgvs_p": null,
"transcript": "XM_011538264.4",
"protein_id": "XP_011536566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2249,
"cds_start": -4,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.26+11060G>T",
"hgvs_p": null,
"transcript": "XM_047428764.1",
"protein_id": "XP_047284720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2249,
"cds_start": -4,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "XM_047428766.1",
"protein_id": "XP_047284722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2204,
"cds_start": -4,
"cds_end": null,
"cds_length": 6615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "XM_047428767.1",
"protein_id": "XP_047284723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2192,
"cds_start": -4,
"cds_end": null,
"cds_length": 6579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "XM_047428768.1",
"protein_id": "XP_047284724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2172,
"cds_start": -4,
"cds_end": null,
"cds_length": 6519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.-10+11060G>T",
"hgvs_p": null,
"transcript": "XM_011538265.3",
"protein_id": "XP_011536567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "n.1839+11060G>T",
"hgvs_p": null,
"transcript": "XR_007063072.1",
"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": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256139",
"gene_hgnc_id": null,
"hgvs_c": "n.*185G>T",
"hgvs_p": null,
"transcript": "ENST00000755021.1",
"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": 902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"dbsnp": "rs2430682",
"frequency_reference_population": 0.5286321,
"hom_count_reference_population": 22709,
"allele_count_reference_population": 80369,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.528632,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 80369,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 22709,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.943,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000338432.12",
"gene_symbol": "ACACB",
"hgnc_id": 85,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-10+7771G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_945332.3",
"gene_symbol": "LOC105369974",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3322C>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000699563.1",
"gene_symbol": "UNG",
"hgnc_id": 12572,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.775-1470G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000541704.2",
"gene_symbol": "ENSG00000256139",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.577-786G>T",
"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
}