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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: 17-18159298-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18159298&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18159298,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000647165.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9180C>T",
"hgvs_p": "p.Ile3060Ile",
"transcript": "NM_016239.4",
"protein_id": "NP_057323.3",
"transcript_support_level": null,
"aa_start": 3060,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9180,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 9468,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "ENST00000647165.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9180C>T",
"hgvs_p": "p.Ile3060Ile",
"transcript": "ENST00000647165.2",
"protein_id": "ENSP00000495481.1",
"transcript_support_level": null,
"aa_start": 3060,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9180,
"cds_end": null,
"cds_length": 10593,
"cdna_start": 9468,
"cdna_end": null,
"cdna_length": 11811,
"mane_select": "NM_016239.4",
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.117C>T",
"hgvs_p": null,
"transcript": "ENST00000433411.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Ile324Ile",
"transcript": "ENST00000418233.7",
"protein_id": "ENSP00000408800.3",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 797,
"cds_start": 972,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Ile324Ile",
"transcript": "ENST00000644795.1",
"protein_id": "ENSP00000495720.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 716,
"cds_start": 972,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Ile14Ile",
"transcript": "ENST00000556535.5",
"protein_id": "ENSP00000451782.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 152,
"cds_start": 42,
"cds_end": null,
"cds_length": 460,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Ile14Ile",
"transcript": "ENST00000578472.5",
"protein_id": "ENSP00000467989.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 122,
"cds_start": 42,
"cds_end": null,
"cds_length": 369,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9183C>T",
"hgvs_p": "p.Ile3061Ile",
"transcript": "XM_017024715.3",
"protein_id": "XP_016880204.1",
"transcript_support_level": null,
"aa_start": 3061,
"aa_end": null,
"aa_length": 3531,
"cds_start": 9183,
"cds_end": null,
"cds_length": 10596,
"cdna_start": 9314,
"cdna_end": null,
"cdna_length": 11657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9120C>T",
"hgvs_p": "p.Ile3040Ile",
"transcript": "XM_017024714.3",
"protein_id": "XP_016880203.1",
"transcript_support_level": null,
"aa_start": 3040,
"aa_end": null,
"aa_length": 3510,
"cds_start": 9120,
"cds_end": null,
"cds_length": 10533,
"cdna_start": 9251,
"cdna_end": null,
"cdna_length": 11594,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.82C>T",
"hgvs_p": null,
"transcript": "ENST00000557190.5",
"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": 481,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.42C>T",
"hgvs_p": null,
"transcript": "ENST00000557655.5",
"protein_id": "ENSP00000451925.1",
"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": 517,
"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": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.1518C>T",
"hgvs_p": null,
"transcript": "ENST00000642418.1",
"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": 3933,
"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": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.982C>T",
"hgvs_p": null,
"transcript": "ENST00000643693.1",
"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": 3406,
"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": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.1914C>T",
"hgvs_p": null,
"transcript": "ENST00000646782.1",
"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": 3703,
"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": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.1685C>T",
"hgvs_p": null,
"transcript": "ENST00000651214.1",
"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": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.316+1398C>T",
"hgvs_p": null,
"transcript": "ENST00000445289.6",
"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": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"dbsnp": "rs968105343",
"frequency_reference_population": 0.000013010524,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136809,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.387,
"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": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000647165.2",
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9180C>T",
"hgvs_p": "p.Ile3060Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}