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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: 17-38058219-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38058219&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D3C",
"hgnc_id": 24889,
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Val480Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001001418.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2952,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08187830448150635,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "V",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001001418.6",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Val480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000622206.2",
"protein_coding": true,
"protein_id": "NP_001001418.5",
"strand": false,
"transcript": "NM_001001418.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "V",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000622206.2",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Val480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001418.6",
"protein_coding": true,
"protein_id": "ENSP00000482345.1",
"strand": false,
"transcript": "ENST00000622206.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 610,
"aa_ref": "V",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 3045,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1622,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006721904.2",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1622T>C",
"hgvs_p": "p.Val541Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721967.1",
"strand": false,
"transcript": "XM_006721904.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 610,
"aa_ref": "V",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1622,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011524814.3",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1622T>C",
"hgvs_p": "p.Val541Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523116.1",
"strand": false,
"transcript": "XM_011524814.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2979,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006721905.2",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1556T>C",
"hgvs_p": "p.Val519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721968.1",
"strand": false,
"transcript": "XM_006721905.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "V",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5200,
"cdna_start": 4674,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047436082.1",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Val480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292038.1",
"strand": false,
"transcript": "XM_047436082.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 527,
"aa_ref": "V",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006721907.4",
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Val458Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721970.1",
"strand": false,
"transcript": "XM_006721907.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 24889,
"gene_symbol": "TBC1D3C",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.447,
"pos": 38058219,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001001418.6"
}
]
}