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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: 10-15064442-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=15064442&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 15064442,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000378228.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu",
"transcript": "NM_001039702.3",
"protein_id": "NP_001034791.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 265,
"cds_start": 342,
"cds_end": null,
"cds_length": 798,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": "ENST00000378228.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu",
"transcript": "ENST00000378228.8",
"protein_id": "ENSP00000367473.4",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 265,
"cds_start": 342,
"cds_end": null,
"cds_length": 798,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": "NM_001039702.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.501A>G",
"hgvs_p": "p.Leu167Leu",
"transcript": "NM_018324.3",
"protein_id": "NP_060794.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 318,
"cds_start": 501,
"cds_end": null,
"cds_length": 957,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.501A>G",
"hgvs_p": "p.Leu167Leu",
"transcript": "ENST00000378217.3",
"protein_id": "ENSP00000367462.3",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 318,
"cds_start": 501,
"cds_end": null,
"cds_length": 957,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu",
"transcript": "ENST00000429028.5",
"protein_id": "ENSP00000399663.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 180,
"cds_start": 342,
"cds_end": null,
"cds_length": 543,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu",
"transcript": "ENST00000428897.5",
"protein_id": "ENSP00000399290.1",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 142,
"cds_start": 342,
"cds_end": null,
"cds_length": 430,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.501A>G",
"hgvs_p": "p.Leu167Leu",
"transcript": "XM_017016376.3",
"protein_id": "XP_016871865.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 318,
"cds_start": 501,
"cds_end": null,
"cds_length": 957,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.501A>G",
"hgvs_p": "p.Leu167Leu",
"transcript": "XM_047425423.1",
"protein_id": "XP_047281379.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 318,
"cds_start": 501,
"cds_end": null,
"cds_length": 957,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu",
"transcript": "XM_024448060.2",
"protein_id": "XP_024303828.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 265,
"cds_start": 342,
"cds_end": null,
"cds_length": 798,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"hgvs_c": "n.222A>G",
"hgvs_p": null,
"transcript": "ENST00000493912.1",
"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": 491,
"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": "ENSG00000299798",
"gene_hgnc_id": null,
"hgvs_c": "n.308-2701T>C",
"hgvs_p": null,
"transcript": "ENST00000766438.1",
"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": 568,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACBD7-DCLRE1CP1",
"gene_hgnc_id": null,
"hgvs_c": "n.229+7091T>C",
"hgvs_p": null,
"transcript": "NR_144471.1",
"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": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OLAH",
"gene_hgnc_id": 25625,
"dbsnp": "rs10906818",
"frequency_reference_population": 0.4144803,
"hom_count_reference_population": 140311,
"allele_count_reference_population": 660767,
"gnomad_exomes_af": 0.414384,
"gnomad_genomes_af": 0.415398,
"gnomad_exomes_ac": 597649,
"gnomad_genomes_ac": 63118,
"gnomad_exomes_homalt": 126990,
"gnomad_genomes_homalt": 13321,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.128,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000378228.8",
"gene_symbol": "OLAH",
"hgnc_id": 25625,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Leu114Leu"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NR_144471.1",
"gene_symbol": "ACBD7-DCLRE1CP1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229+7091T>C",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000766438.1",
"gene_symbol": "ENSG00000299798",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.308-2701T>C",
"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
}