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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: 17-50863594-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50863594&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50863594,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005749.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_005749.4",
"protein_id": "NP_005740.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 345,
"cds_start": 424,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": "ENST00000499247.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000499247.3",
"protein_id": "ENSP00000427695.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 345,
"cds_start": 424,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": "NM_005749.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000268957.3",
"protein_id": "ENSP00000268957.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 345,
"cds_start": 424,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_001243877.2",
"protein_id": "NP_001230806.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 345,
"cds_start": 424,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Ile3Val",
"transcript": "NM_001243885.2",
"protein_id": "NP_001230814.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 206,
"cds_start": 7,
"cds_end": null,
"cds_length": 621,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"hgvs_c": "n.664A>G",
"hgvs_p": null,
"transcript": "ENST00000509385.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TOB1",
"gene_hgnc_id": 11979,
"dbsnp": "rs756855994",
"frequency_reference_population": 0.00006814986,
"hom_count_reference_population": 0,
"allele_count_reference_population": 110,
"gnomad_exomes_af": 0.0000731928,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23137971758842468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.0689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.863,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005749.4",
"gene_symbol": "TOB1",
"hgnc_id": 11979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val"
}
],
"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
}