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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: 15-41564882-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41564882&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41564882,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000263798.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.668-144A>G",
"hgvs_p": null,
"transcript": "NM_006293.4",
"protein_id": "NP_006284.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": "ENST00000263798.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.668-144A>G",
"hgvs_p": null,
"transcript": "ENST00000263798.8",
"protein_id": "ENSP00000263798.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": "NM_006293.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "n.99A>G",
"hgvs_p": null,
"transcript": "ENST00000560227.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.533-144A>G",
"hgvs_p": null,
"transcript": "NM_001330264.2",
"protein_id": "NP_001317193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": -4,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.533-144A>G",
"hgvs_p": null,
"transcript": "ENST00000559066.5",
"protein_id": "ENSP00000454050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": -4,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.668-144A>G",
"hgvs_p": null,
"transcript": "XM_017022543.3",
"protein_id": "XP_016878032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"dbsnp": "rs2277537",
"frequency_reference_population": 0.4568837,
"hom_count_reference_population": 71051,
"allele_count_reference_population": 291140,
"gnomad_exomes_af": 0.448406,
"gnomad_genomes_af": 0.483961,
"gnomad_exomes_ac": 217608,
"gnomad_genomes_ac": 73532,
"gnomad_exomes_homalt": 52092,
"gnomad_genomes_homalt": 18959,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.457,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263798.8",
"gene_symbol": "TYRO3",
"hgnc_id": 12446,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.668-144A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}