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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: 12-109188171-CTCCTTCCTTCCTTCCTTCCTTCCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109188171&ref=CTCCTTCCTTCCTTCCTTCCTTCCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109188171,
"ref": "CTCCTTCCTTCCTTCCTTCCTTCCT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001093.4",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.2144+49_2144+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"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": null,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338432.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001093.4"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.2144+10_2144+33delTCCTTCCTTCCTTCCTTCCTTCCT",
"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": null,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001093.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338432.12"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.2144+10_2144+33delTCCTTCCTTCCTTCCTTCCTTCCT",
"hgvs_p": null,
"transcript": "ENST00000377848.7",
"protein_id": "ENSP00000367079.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": null,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377848.7"
},
{
"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": 14,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.2144+49_2144+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"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": null,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412734.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.2144+49_2144+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"hgvs_p": null,
"transcript": "NM_001412735.1",
"protein_id": "NP_001399664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": null,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412735.1"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.1538+49_1538+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"hgvs_p": null,
"transcript": "NM_001412736.1",
"protein_id": "NP_001399665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2256,
"cds_start": null,
"cds_end": null,
"cds_length": 6771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412736.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.1517+49_1517+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"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": null,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412737.1"
},
{
"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": 51,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.1538+49_1538+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"hgvs_p": null,
"transcript": "NM_001412738.1",
"protein_id": "NP_001399667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2193,
"cds_start": null,
"cds_end": null,
"cds_length": 6582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412738.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.1538+49_1538+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"hgvs_p": null,
"transcript": "NM_001412739.1",
"protein_id": "NP_001399668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1819,
"cds_start": null,
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"cds_length": 5460,
"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "c.1538+49_1538+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"hgvs_p": null,
"transcript": "NM_001412741.1",
"protein_id": "NP_001399670.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1086,
"cds_start": null,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"exon_count": 47,
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"gene_symbol": "ACACB",
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"hgvs_c": "c.-1859+10_-1859+33delTCCTTCCTTCCTTCCTTCCTTCCT",
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"transcript": "ENST00000377854.9",
"protein_id": "ENSP00000367085.6",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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],
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"gene_symbol": "ACACB",
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},
{
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],
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},
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],
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},
{
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],
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},
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],
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},
{
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],
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},
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},
{
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 41,
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"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"hgvs_c": "n.3992+49_3992+72delTTCCTTCCTTCCTTCCTTCCTTCC",
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"transcript": "XR_007063072.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "XR_007063072.1"
}
],
"gene_symbol": "ACACB",
"gene_hgnc_id": 85,
"dbsnp": "rs373209583",
"frequency_reference_population": 0.0002645343,
"hom_count_reference_population": 2,
"allele_count_reference_population": 359,
"gnomad_exomes_af": 0.000198888,
"gnomad_genomes_af": 0.00104624,
"gnomad_exomes_ac": 249,
"gnomad_genomes_ac": 110,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"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": 1.213,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001093.4",
"gene_symbol": "ACACB",
"hgnc_id": 85,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2144+49_2144+72delTTCCTTCCTTCCTTCCTTCCTTCC",
"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
}