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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: 17-18144511-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18144511&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18144511,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000647165.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6192G>C",
"hgvs_p": "p.Gly2064Gly",
"transcript": "NM_016239.4",
"protein_id": "NP_057323.3",
"transcript_support_level": null,
"aa_start": 2064,
"aa_end": null,
"aa_length": 3530,
"cds_start": 6192,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 6480,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "ENST00000647165.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6192G>C",
"hgvs_p": "p.Gly2064Gly",
"transcript": "ENST00000647165.2",
"protein_id": "ENSP00000495481.1",
"transcript_support_level": null,
"aa_start": 2064,
"aa_end": null,
"aa_length": 3530,
"cds_start": 6192,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 6480,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "NM_016239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6195G>C",
"hgvs_p": "p.Gly2065Gly",
"transcript": "XM_017024715.3",
"protein_id": "XP_016880204.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 3531,
"cds_start": 6195,
"cds_end": null,
"cds_length": 10596,
"cdna_start": 6326,
"cdna_end": null,
"cdna_length": 11657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6132G>C",
"hgvs_p": "p.Gly2044Gly",
"transcript": "XM_017024714.3",
"protein_id": "XP_016880203.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 3510,
"cds_start": 6132,
"cds_end": null,
"cds_length": 10533,
"cdna_start": 6263,
"cdna_end": null,
"cdna_length": 11594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6132G>C",
"hgvs_p": "p.Gly2044Gly",
"transcript": "XM_011523918.3",
"protein_id": "XP_011522220.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2117,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6354,
"cdna_start": 6263,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6132G>C",
"hgvs_p": "p.Gly2044Gly",
"transcript": "XM_024450780.2",
"protein_id": "XP_024306548.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2098,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6263,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.6132G>C",
"hgvs_p": "p.Gly2044Gly",
"transcript": "XM_024450781.2",
"protein_id": "XP_024306549.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2074,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6225,
"cdna_start": 6263,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"dbsnp": "rs55688805",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.755,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647165.2",
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6192G>C",
"hgvs_p": "p.Gly2064Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}