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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: 15-70667114-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70667114&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70667114,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018003.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"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.3570G>C",
"hgvs_p": "p.Lys1190Asn",
"transcript": "NM_018003.4",
"protein_id": "NP_060473.2",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3721,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "ENST00000322954.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3570G>C",
"hgvs_p": "p.Lys1190Asn",
"transcript": "ENST00000322954.11",
"protein_id": "ENSP00000314556.6",
"transcript_support_level": 1,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3721,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": "NM_018003.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3243G>C",
"hgvs_p": "p.Lys1081Asn",
"transcript": "ENST00000539319.5",
"protein_id": "ENSP00000438667.1",
"transcript_support_level": 1,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3531G>C",
"hgvs_p": "p.Lys1177Asn",
"transcript": "NM_001008224.3",
"protein_id": "NP_001008225.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3531,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3898,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3531G>C",
"hgvs_p": "p.Lys1177Asn",
"transcript": "ENST00000379983.6",
"protein_id": "ENSP00000369319.2",
"transcript_support_level": 5,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3531,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3525G>C",
"hgvs_p": "p.Lys1175Asn",
"transcript": "ENST00000560441.5",
"protein_id": "ENSP00000454018.1",
"transcript_support_level": 5,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3525,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3630G>C",
"hgvs_p": "p.Lys1210Asn",
"transcript": "XM_011521752.4",
"protein_id": "XP_011520054.2",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3630,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3597G>C",
"hgvs_p": "p.Lys1199Asn",
"transcript": "XM_011521753.3",
"protein_id": "XP_011520055.2",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3597,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 7155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3537G>C",
"hgvs_p": "p.Lys1179Asn",
"transcript": "XM_017022394.3",
"protein_id": "XP_016877883.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3537,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3519G>C",
"hgvs_p": "p.Lys1173Asn",
"transcript": "XM_017022395.2",
"protein_id": "XP_016877884.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3519,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3614,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.3498G>C",
"hgvs_p": "p.Lys1166Asn",
"transcript": "XM_005254529.5",
"protein_id": "XP_005254586.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3498,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.2814G>C",
"hgvs_p": "p.Lys938Asn",
"transcript": "XM_047432783.1",
"protein_id": "XP_047288739.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UACA",
"gene_hgnc_id": 15947,
"dbsnp": "rs780597103",
"frequency_reference_population": 0.000021080958,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000198525,
"gnomad_genomes_af": 0.0000328818,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27698656916618347,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.3916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.344,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018003.4",
"gene_symbol": "UACA",
"hgnc_id": 15947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3570G>C",
"hgvs_p": "p.Lys1190Asn"
}
],
"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
}