← 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: 15-70666912-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70666912&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70666912,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018003.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3772T>C",
"hgvs_p": "p.Cys1258Arg",
"transcript": "NM_018003.4",
"protein_id": "NP_060473.2",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3772,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "ENST00000322954.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3772T>C",
"hgvs_p": "p.Cys1258Arg",
"transcript": "ENST00000322954.11",
"protein_id": "ENSP00000314556.6",
"transcript_support_level": 1,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3772,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "NM_018003.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3445T>C",
"hgvs_p": "p.Cys1149Arg",
"transcript": "ENST00000539319.5",
"protein_id": "ENSP00000438667.1",
"transcript_support_level": 1,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3445,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3733T>C",
"hgvs_p": "p.Cys1245Arg",
"transcript": "NM_001008224.3",
"protein_id": "NP_001008225.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3733,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4100,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3733T>C",
"hgvs_p": "p.Cys1245Arg",
"transcript": "ENST00000379983.6",
"protein_id": "ENSP00000369319.2",
"transcript_support_level": 5,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3733,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4126,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3727T>C",
"hgvs_p": "p.Cys1243Arg",
"transcript": "ENST00000560441.5",
"protein_id": "ENSP00000454018.1",
"transcript_support_level": 5,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3727,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4120,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3832T>C",
"hgvs_p": "p.Cys1278Arg",
"transcript": "XM_011521752.4",
"protein_id": "XP_011520054.2",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3832,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4207,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3799T>C",
"hgvs_p": "p.Cys1267Arg",
"transcript": "XM_011521753.3",
"protein_id": "XP_011520055.2",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3799,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4174,
"cdna_end": null,
"cdna_length": 7155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3739T>C",
"hgvs_p": "p.Cys1247Arg",
"transcript": "XM_017022394.3",
"protein_id": "XP_016877883.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3739,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3721T>C",
"hgvs_p": "p.Cys1241Arg",
"transcript": "XM_017022395.2",
"protein_id": "XP_016877884.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3700T>C",
"hgvs_p": "p.Cys1234Arg",
"transcript": "XM_005254529.5",
"protein_id": "XP_005254586.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3700,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3016T>C",
"hgvs_p": "p.Cys1006Arg",
"transcript": "XM_047432783.1",
"protein_id": "XP_047288739.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"dbsnp": "rs1896929243",
"frequency_reference_population": 0.000013151146,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131511,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23968204855918884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1041,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.712,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018003.4",
"gene_symbol": "UACA",
"hgnc_id": 15947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3772T>C",
"hgvs_p": "p.Cys1258Arg"
}
],
"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
}