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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: 17-18157840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18157840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"hgvs_c": "c.8907C>T",
"hgvs_p": "p.Ala2969Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_016239.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3530,
"aa_ref": "A",
"aa_start": 2969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11811,
"cdna_start": 9195,
"cds_end": null,
"cds_length": 10593,
"cds_start": 8907,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "NM_016239.4",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.8907C>T",
"hgvs_p": "p.Ala2969Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647165.2",
"protein_coding": true,
"protein_id": "NP_057323.3",
"strand": true,
"transcript": "NM_016239.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3530,
"aa_ref": "A",
"aa_start": 2969,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11811,
"cdna_start": 9195,
"cds_end": null,
"cds_length": 10593,
"cds_start": 8907,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "ENST00000647165.2",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.8907C>T",
"hgvs_p": "p.Ala2969Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016239.4",
"protein_coding": true,
"protein_id": "ENSP00000495481.1",
"strand": true,
"transcript": "ENST00000647165.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 2394,
"cds_start": 699,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000418233.7",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ala233Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408800.3",
"strand": true,
"transcript": "ENST00000418233.7",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 716,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 993,
"cds_end": null,
"cds_length": 2151,
"cds_start": 699,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644795.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ala233Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495720.1",
"strand": true,
"transcript": "ENST00000644795.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3531,
"aa_ref": "A",
"aa_start": 2970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11657,
"cdna_start": 9041,
"cds_end": null,
"cds_length": 10596,
"cds_start": 8910,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017024715.3",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.8910C>T",
"hgvs_p": "p.Ala2970Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880204.1",
"strand": true,
"transcript": "XM_017024715.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3510,
"aa_ref": "A",
"aa_start": 2949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11594,
"cdna_start": 8978,
"cds_end": null,
"cds_length": 10533,
"cds_start": 8847,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017024714.3",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.8847C>T",
"hgvs_p": "p.Ala2949Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880203.1",
"strand": true,
"transcript": "XM_017024714.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000445289.6",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.256C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000445289.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642418.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.1245C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642418.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643693.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.727C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643693.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646782.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.1641C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646782.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000651214.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.1544C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651214.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs727504611",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000014748762,
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000147488,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -6.688,
"pos": 18157840,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016239.4"
}
]
}