← Back to variant description
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: 17-13014469-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=13014469&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 13014469,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000338034.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu",
"transcript": "NM_018127.7",
"protein_id": "NP_060597.4",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 826,
"cds_start": 460,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "ENST00000338034.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu",
"transcript": "ENST00000338034.9",
"protein_id": "ENSP00000337445.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 826,
"cds_start": 460,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "NM_018127.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu",
"transcript": "NM_173717.2",
"protein_id": "NP_776065.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 825,
"cds_start": 460,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Phe135Leu",
"transcript": "ENST00000395962.6",
"protein_id": "ENSP00000379291.1",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 807,
"cds_start": 403,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu",
"transcript": "NM_001165962.2",
"protein_id": "NP_001159434.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 786,
"cds_start": 460,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu",
"transcript": "ENST00000426905.7",
"protein_id": "ENSP00000405223.3",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 786,
"cds_start": 460,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "ENST00000609101.5",
"protein_id": "ENSP00000477044.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 241,
"cds_start": 178,
"cds_end": null,
"cds_length": 727,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "ENST00000580504.5",
"protein_id": "ENSP00000463594.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 147,
"cds_start": 178,
"cds_end": null,
"cds_length": 444,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "ENST00000581499.6",
"protein_id": "ENSP00000463321.2",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 131,
"cds_start": 178,
"cds_end": null,
"cds_length": 397,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "ENST00000609757.5",
"protein_id": "ENSP00000477093.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 123,
"cds_start": 178,
"cds_end": null,
"cds_length": 373,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "ENST00000583371.5",
"protein_id": "ENSP00000464358.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 121,
"cds_start": 178,
"cds_end": null,
"cds_length": 367,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "XM_024450860.2",
"protein_id": "XP_024306628.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 732,
"cds_start": 178,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Phe60Leu",
"transcript": "XM_024450861.2",
"protein_id": "XP_024306629.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 732,
"cds_start": 178,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.722T>C",
"hgvs_p": null,
"transcript": "ENST00000484122.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.257T>C",
"hgvs_p": null,
"transcript": "ENST00000609345.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 849,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.433-1194T>C",
"hgvs_p": null,
"transcript": "ENST00000578071.1",
"protein_id": "ENSP00000477482.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"dbsnp": "rs397515465",
"frequency_reference_population": 6.842173e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84217e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.724280834197998,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.391,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.336,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000338034.9",
"gene_symbol": "ELAC2",
"hgnc_id": 14198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.460T>C",
"hgvs_p": "p.Phe154Leu"
}
],
"clinvar_disease": " 2, hereditary, susceptibility to,Combined oxidative phosphorylation defect type 17,Prostate cancer",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Combined oxidative phosphorylation defect type 17|Prostate cancer, hereditary, 2, susceptibility to",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}