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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: 2-241570221-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241570221&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241570221,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032515.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "NM_032515.5",
"protein_id": "NP_115904.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318407.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032515.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000318407.5",
"protein_id": "ENSP00000314132.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032515.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318407.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Leu182Pro",
"transcript": "ENST00000853586.1",
"protein_id": "ENSP00000523645.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 245,
"cds_start": 545,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853586.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Leu182Pro",
"transcript": "ENST00000969136.1",
"protein_id": "ENSP00000639195.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 245,
"cds_start": 545,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969136.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000969135.1",
"protein_id": "ENSP00000639194.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 230,
"cds_start": 446,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969135.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000853582.1",
"protein_id": "ENSP00000523641.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853582.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000853584.1",
"protein_id": "ENSP00000523643.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853584.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000853585.1",
"protein_id": "ENSP00000523644.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853585.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "ENST00000930986.1",
"protein_id": "ENSP00000601045.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930986.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Leu106Pro",
"transcript": "ENST00000853583.1",
"protein_id": "ENSP00000523642.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 169,
"cds_start": 317,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853583.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Leu106Pro",
"transcript": "ENST00000853587.1",
"protein_id": "ENSP00000523646.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 169,
"cds_start": 317,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853587.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Leu106Pro",
"transcript": "ENST00000930987.1",
"protein_id": "ENSP00000601046.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 169,
"cds_start": 317,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930987.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro",
"transcript": "XM_011511696.3",
"protein_id": "XP_011509998.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 446,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511696.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Leu71Pro",
"transcript": "XM_047445587.1",
"protein_id": "XP_047301543.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 134,
"cds_start": 212,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445587.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Leu71Pro",
"transcript": "XM_047445588.1",
"protein_id": "XP_047301544.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 134,
"cds_start": 212,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445588.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.350-2076T>C",
"hgvs_p": null,
"transcript": "XM_011511697.4",
"protein_id": "XP_011509999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511697.4"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.350-2076T>C",
"hgvs_p": null,
"transcript": "XM_047445589.1",
"protein_id": "XP_047301545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445589.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"hgvs_c": "c.350-2076T>C",
"hgvs_p": null,
"transcript": "XM_047445590.1",
"protein_id": "XP_047301546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445590.1"
}
],
"gene_symbol": "BOK",
"gene_hgnc_id": 1087,
"dbsnp": "rs368464201",
"frequency_reference_population": 0.00009923211,
"hom_count_reference_population": 0,
"allele_count_reference_population": 159,
"gnomad_exomes_af": 0.000104131,
"gnomad_genomes_af": 0.0000525583,
"gnomad_exomes_ac": 151,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8959871530532837,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9597,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.049,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032515.5",
"gene_symbol": "BOK",
"hgnc_id": 1087,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Leu149Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}