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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: 17-18124532-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18124532&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18124532,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000647165.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "NM_016239.4",
"protein_id": "NP_057323.3",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 3530,
"cds_start": 3659,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "ENST00000647165.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "ENST00000647165.2",
"protein_id": "ENSP00000495481.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 3530,
"cds_start": 3659,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "NM_016239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "ENST00000651088.1",
"protein_id": "ENSP00000498988.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 76,
"cds_start": 200,
"cds_end": null,
"cds_length": 233,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "XM_017024715.3",
"protein_id": "XP_016880204.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 3531,
"cds_start": 3659,
"cds_end": null,
"cds_length": 10596,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 11657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "XM_017024714.3",
"protein_id": "XP_016880203.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 3510,
"cds_start": 3659,
"cds_end": null,
"cds_length": 10533,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 11594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "XM_011523918.3",
"protein_id": "XP_011522220.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2117,
"cds_start": 3659,
"cds_end": null,
"cds_length": 6354,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "XM_024450780.2",
"protein_id": "XP_024306548.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3659,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu",
"transcript": "XM_024450781.2",
"protein_id": "XP_024306549.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2074,
"cds_start": 3659,
"cds_end": null,
"cds_length": 6225,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.5365G>A",
"hgvs_p": null,
"transcript": "ENST00000583079.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 6399,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.3790G>A",
"hgvs_p": null,
"transcript": "XR_934039.3",
"protein_id": null,
"transcript_support_level": null,
"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": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"dbsnp": "rs201689819",
"frequency_reference_population": 0.00072214473,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1165,
"gnomad_exomes_af": 0.000761841,
"gnomad_genomes_af": 0.000341396,
"gnomad_exomes_ac": 1113,
"gnomad_genomes_ac": 52,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011740714311599731,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.324,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647165.2",
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Gly1220Glu"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 3,MYO15A-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3",
"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 3|MYO15A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}