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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: 8-115604876-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=115604876&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 115604876,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000395715.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1093C>A",
"hgvs_p": "p.Gln365Lys",
"transcript": "NM_014112.5",
"protein_id": "NP_054831.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1093,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "ENST00000395715.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1093C>A",
"hgvs_p": "p.Gln365Lys",
"transcript": "ENST00000395715.8",
"protein_id": "ENSP00000379065.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1093,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "NM_014112.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Gln352Lys",
"transcript": "ENST00000220888.9",
"protein_id": "ENSP00000220888.5",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Gln352Lys",
"transcript": "ENST00000519674.1",
"protein_id": "ENSP00000429174.1",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 902,
"cds_start": 1054,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Gln358Lys",
"transcript": "NM_001282903.3",
"protein_id": "NP_001269832.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 9950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Gln356Lys",
"transcript": "NM_001282902.3",
"protein_id": "NP_001269831.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1285,
"cds_start": 1066,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 9515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Gln356Lys",
"transcript": "ENST00000520276.5",
"protein_id": "ENSP00000428680.1",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 1285,
"cds_start": 1066,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Gln352Lys",
"transcript": "NM_001330599.2",
"protein_id": "NP_001317528.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 9806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Gln352Lys",
"transcript": "ENST00000640765.1",
"protein_id": "ENSP00000492037.1",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Gln306Lys",
"transcript": "ENST00000519076.5",
"protein_id": "ENSP00000428910.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 1035,
"cds_start": 916,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Gln356Lys",
"transcript": "ENST00000517323.2",
"protein_id": "ENSP00000430803.2",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 690,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"dbsnp": "rs1554596393",
"frequency_reference_population": 0.0000018586785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4272862672805786,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.556,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395715.8",
"gene_symbol": "TRPS1",
"hgnc_id": 12340,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1093C>A",
"hgvs_p": "p.Gln365Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}