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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: 15-42637928-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42637928&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42637928,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020759.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_020759.3",
"protein_id": "NP_065810.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4700,
"cds_start": 373,
"cds_end": null,
"cds_length": 14103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290607.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020759.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000290607.12",
"protein_id": "ENSP00000290607.7",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 4700,
"cds_start": 373,
"cds_end": null,
"cds_length": 14103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020759.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290607.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "ENST00000564158.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000564158.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_011521831.4",
"protein_id": "XP_011520133.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4705,
"cds_start": 373,
"cds_end": null,
"cds_length": 14118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521831.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Arg124Trp",
"transcript": "XM_011521832.3",
"protein_id": "XP_011520134.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 4704,
"cds_start": 370,
"cds_end": null,
"cds_length": 14115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521832.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_011521834.4",
"protein_id": "XP_011520136.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4684,
"cds_start": 373,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521834.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_017022439.3",
"protein_id": "XP_016877928.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4679,
"cds_start": 373,
"cds_end": null,
"cds_length": 14040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022439.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_011521835.4",
"protein_id": "XP_011520137.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4658,
"cds_start": 373,
"cds_end": null,
"cds_length": 13977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521835.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "XM_011521836.3",
"protein_id": "XP_011520138.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 4651,
"cds_start": 211,
"cds_end": null,
"cds_length": 13956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521836.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "XM_017022440.2",
"protein_id": "XP_016877929.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 4651,
"cds_start": 211,
"cds_end": null,
"cds_length": 13956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022440.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "XM_017022441.3",
"protein_id": "XP_016877930.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 4632,
"cds_start": 154,
"cds_end": null,
"cds_length": 13899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022441.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Arg41Trp",
"transcript": "XM_011521837.4",
"protein_id": "XP_011520139.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 4621,
"cds_start": 121,
"cds_end": null,
"cds_length": 13866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521837.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_047432903.1",
"protein_id": "XP_047288859.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 4258,
"cds_start": 373,
"cds_end": null,
"cds_length": 12777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432903.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_024450002.2",
"protein_id": "XP_024305770.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1851,
"cds_start": 373,
"cds_end": null,
"cds_length": 5556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450002.2"
},
{
"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": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.352-98C>T",
"hgvs_p": null,
"transcript": "XM_011521833.3",
"protein_id": "XP_011520135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4694,
"cds_start": null,
"cds_end": null,
"cds_length": 14085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521833.3"
},
{
"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": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.352-98C>T",
"hgvs_p": null,
"transcript": "XM_047432901.1",
"protein_id": "XP_047288857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4668,
"cds_start": null,
"cds_end": null,
"cds_length": 14007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432901.1"
},
{
"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": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.352-98C>T",
"hgvs_p": null,
"transcript": "XM_047432902.1",
"protein_id": "XP_047288858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4647,
"cds_start": null,
"cds_end": null,
"cds_length": 13944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "n.416C>T",
"hgvs_p": null,
"transcript": "ENST00000563872.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563872.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "n.444C>T",
"hgvs_p": null,
"transcript": "ENST00000568493.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568493.1"
}
],
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"dbsnp": "rs1458784615",
"frequency_reference_population": 0.000024549729,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000245497,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9794195890426636,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.62,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5825,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.195,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_020759.3",
"gene_symbol": "STARD9",
"hgnc_id": 19162,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp"
}
],
"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
}