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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: 19-4816266-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4816266&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4816266,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000248244.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Pro704Pro",
"transcript": "NM_182919.4",
"protein_id": "NP_891549.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 712,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "ENST00000248244.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Pro704Pro",
"transcript": "ENST00000248244.6",
"protein_id": "ENSP00000248244.4",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 712,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "NM_182919.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.2070C>A",
"hgvs_p": "p.Pro690Pro",
"transcript": "NM_001385678.1",
"protein_id": "NP_001372607.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 698,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.1977C>A",
"hgvs_p": "p.Pro659Pro",
"transcript": "NM_001385679.1",
"protein_id": "NP_001372608.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 667,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.1470C>A",
"hgvs_p": "p.Pro490Pro",
"transcript": "NM_001385680.1",
"protein_id": "NP_001372609.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 498,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"dbsnp": "rs754654920",
"frequency_reference_population": 0.000002205613,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000220561,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.871,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000248244.6",
"gene_symbol": "TICAM1",
"hgnc_id": 18348,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Pro704Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}