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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: 8-140458344-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140458344&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 140458344,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "XM_011517326.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"transcript": "XM_011517326.3",
"protein_id": "XP_011515628.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1237,
"cds_start": 221,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 7065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"transcript": "XM_011517328.3",
"protein_id": "XP_011515630.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1128,
"cds_start": 221,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"transcript": "XM_047422294.1",
"protein_id": "XP_047278250.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1119,
"cds_start": 221,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"transcript": "XM_017013893.2",
"protein_id": "XP_016869382.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 989,
"cds_start": 221,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"transcript": "XM_047422298.1",
"protein_id": "XP_047278254.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 964,
"cds_start": 221,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.-74C>T",
"hgvs_p": null,
"transcript": "NM_031466.8",
"protein_id": "NP_113654.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.-74C>T",
"hgvs_p": null,
"transcript": "ENST00000648948.2",
"protein_id": "ENSP00000498020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"dbsnp": "rs139214686",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04299604892730713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.1041,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.515,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_011517326.3",
"gene_symbol": "TRAPPC9",
"hgnc_id": 30832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}