← 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: 15-70667464-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70667464&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70667464,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018003.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3220G>T",
"hgvs_p": "p.Asp1074Tyr",
"transcript": "NM_018003.4",
"protein_id": "NP_060473.2",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3220,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "ENST00000322954.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018003.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3220G>T",
"hgvs_p": "p.Asp1074Tyr",
"transcript": "ENST00000322954.11",
"protein_id": "ENSP00000314556.6",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3220,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "NM_018003.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322954.11"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.2893G>T",
"hgvs_p": "p.Asp965Tyr",
"transcript": "ENST00000539319.5",
"protein_id": "ENSP00000438667.1",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1307,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539319.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3187G>T",
"hgvs_p": "p.Asp1063Tyr",
"transcript": "ENST00000908301.1",
"protein_id": "ENSP00000578360.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3187,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908301.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3181G>T",
"hgvs_p": "p.Asp1061Tyr",
"transcript": "NM_001008224.3",
"protein_id": "NP_001008225.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008224.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3181G>T",
"hgvs_p": "p.Asp1061Tyr",
"transcript": "ENST00000379983.6",
"protein_id": "ENSP00000369319.2",
"transcript_support_level": 5,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3574,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379983.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3175G>T",
"hgvs_p": "p.Asp1059Tyr",
"transcript": "ENST00000560441.5",
"protein_id": "ENSP00000454018.1",
"transcript_support_level": 5,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3175,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560441.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.3097G>T",
"hgvs_p": "p.Asp1033Tyr",
"transcript": "ENST00000932403.1",
"protein_id": "ENSP00000602462.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3097,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932403.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3280G>T",
"hgvs_p": "p.Asp1094Tyr",
"transcript": "XM_011521752.4",
"protein_id": "XP_011520054.2",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3280,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521752.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3247G>T",
"hgvs_p": "p.Asp1083Tyr",
"transcript": "XM_011521753.3",
"protein_id": "XP_011520055.2",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 7155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521753.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3187G>T",
"hgvs_p": "p.Asp1063Tyr",
"transcript": "XM_017022394.3",
"protein_id": "XP_016877883.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3187,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022394.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3169G>T",
"hgvs_p": "p.Asp1057Tyr",
"transcript": "XM_017022395.2",
"protein_id": "XP_016877884.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3169,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022395.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.3148G>T",
"hgvs_p": "p.Asp1050Tyr",
"transcript": "XM_005254529.5",
"protein_id": "XP_005254586.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3148,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3515,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254529.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.2464G>T",
"hgvs_p": "p.Asp822Tyr",
"transcript": "XM_047432783.1",
"protein_id": "XP_047288739.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2464,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432783.1"
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"hgvs_c": "c.1132-2650G>T",
"hgvs_p": null,
"transcript": "ENST00000966074.1",
"protein_id": "ENSP00000636133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966074.1"
}
],
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"dbsnp": "rs61729919",
"frequency_reference_population": 0.0020004918,
"hom_count_reference_population": 57,
"allele_count_reference_population": 3221,
"gnomad_exomes_af": 0.00108242,
"gnomad_genomes_af": 0.0107905,
"gnomad_exomes_ac": 1578,
"gnomad_genomes_ac": 1643,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0045127272605896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.1046,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.596,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018003.4",
"gene_symbol": "UACA",
"hgnc_id": 15947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3220G>T",
"hgvs_p": "p.Asp1074Tyr"
}
],
"clinvar_disease": "UACA-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "UACA-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}