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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: 12-43753688-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=43753688&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 43753688,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000344862.10",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "NM_031292.5",
"protein_id": "NP_112582.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13567,
"mane_select": "ENST00000344862.10",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "ENST00000344862.10",
"protein_id": "ENSP00000343081.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13567,
"mane_select": "NM_031292.5",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "ENST00000416848.6",
"protein_id": "ENSP00000415899.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4364,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "ENST00000551923.5",
"protein_id": "ENSP00000447706.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3313,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "n.910+648T>G",
"hgvs_p": null,
"transcript": "ENST00000553166.1",
"protein_id": "ENSP00000446865.1",
"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": 1149,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "NM_001098614.3",
"protein_id": "NP_001092084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13596,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.910+648T>G",
"hgvs_p": null,
"transcript": "NM_001098615.2",
"protein_id": "NP_001092085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14011,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.-30+5042T>G",
"hgvs_p": null,
"transcript": "NM_001271826.2",
"protein_id": "NP_001258755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12641,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.-30+5042T>G",
"hgvs_p": null,
"transcript": "ENST00000431332.7",
"protein_id": "ENSP00000398497.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1873,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.-30+648T>G",
"hgvs_p": null,
"transcript": "ENST00000550784.5",
"protein_id": "ENSP00000449222.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.-30+1529T>G",
"hgvs_p": null,
"transcript": "ENST00000547156.1",
"protein_id": "ENSP00000450341.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
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"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.937+648T>G",
"hgvs_p": null,
"transcript": "XM_011538790.4",
"protein_id": "XP_011537092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
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"cds_length": 2133,
"cdna_start": null,
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"cdna_length": 13604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.946+648T>G",
"hgvs_p": null,
"transcript": "XM_011538791.3",
"protein_id": "XP_011537093.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 680,
"cds_start": -4,
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"cds_length": 2043,
"cdna_start": null,
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"cdna_length": 13468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.937+648T>G",
"hgvs_p": null,
"transcript": "XM_047429625.1",
"protein_id": "XP_047285581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
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"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.946+648T>G",
"hgvs_p": null,
"transcript": "XM_006719623.3",
"protein_id": "XP_006719686.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.946+648T>G",
"hgvs_p": null,
"transcript": "XM_047429626.1",
"protein_id": "XP_047285582.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "c.946+648T>G",
"hgvs_p": null,
"transcript": "XM_047429627.1",
"protein_id": "XP_047285583.1",
"transcript_support_level": null,
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"aa_length": 467,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"hgvs_c": "n.987+648T>G",
"hgvs_p": null,
"transcript": "XR_944748.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1634,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PUS7L",
"gene_hgnc_id": 25276,
"dbsnp": "rs1870765",
"frequency_reference_population": 0.018445073,
"hom_count_reference_population": 57,
"allele_count_reference_population": 2809,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0184451,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2809,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.382,
"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": "ENST00000344862.10",
"gene_symbol": "PUS7L",
"hgnc_id": 25276,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910+648T>G",
"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
}