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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: 17-18167717-CG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18167717&ref=CG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"hgvs_c": "c.10076_10077delCGinsTA",
"hgvs_p": "p.Pro3359Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_016239.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3530,
"aa_ref": "P",
"aa_start": 3359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11811,
"cdna_start": 10364,
"cds_end": null,
"cds_length": 10593,
"cds_start": 10076,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016239.4",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.10076_10077delCGinsTA",
"hgvs_p": "p.Pro3359Leu",
"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": "L",
"aa_end": null,
"aa_length": 3530,
"aa_ref": "P",
"aa_start": 3359,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11811,
"cdna_start": 10364,
"cds_end": null,
"cds_length": 10593,
"cds_start": 10076,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647165.2",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.10076_10077delCGinsTA",
"hgvs_p": "p.Pro3359Leu",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000433411.7",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.1526_1527delCGinsTA",
"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": "ENST00000433411.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000578575.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.*117_*118delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466630.1",
"strand": true,
"transcript": "ENST00000578575.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000578575.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.*117_*118delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466630.1",
"strand": true,
"transcript": "ENST00000578575.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 797,
"aa_ref": "P",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418233.7",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.1868_1869delCGinsTA",
"hgvs_p": "p.Pro623Leu",
"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": "L",
"aa_end": null,
"aa_length": 716,
"aa_ref": "P",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644795.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.1868_1869delCGinsTA",
"hgvs_p": "p.Pro623Leu",
"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": "L",
"aa_end": null,
"aa_length": 3531,
"aa_ref": "P",
"aa_start": 3360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11657,
"cdna_start": 10210,
"cds_end": null,
"cds_length": 10596,
"cds_start": 10079,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024715.3",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.10079_10080delCGinsTA",
"hgvs_p": "p.Pro3360Leu",
"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": "L",
"aa_end": null,
"aa_length": 3510,
"aa_ref": "P",
"aa_start": 3339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11594,
"cdna_start": 10147,
"cds_end": null,
"cds_length": 10533,
"cds_start": 10016,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024714.3",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.10016_10017delCGinsTA",
"hgvs_p": "p.Pro3339Leu",
"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": 257,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": null,
"cds_end": null,
"cds_length": 774,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579848.6",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "c.502+3879_502+3880delCGinsTA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465910.1",
"strand": true,
"transcript": "ENST00000579848.6",
"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": 1345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000445289.6",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.845_846delCGinsTA",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000642418.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.2340_2341delCGinsTA",
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000643693.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.1878_1879delCGinsTA",
"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": 18,
"exon_rank_end": null,
"feature": "ENST00000646782.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.2810_2811delCGinsTA",
"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": 17,
"exon_rank_end": null,
"feature": "ENST00000651214.1",
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"hgvs_c": "n.2507_2508delCGinsTA",
"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": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7594,
"gene_symbol": "MYO15A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.82,
"pos": 18167717,
"ref": "CG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_016239.4"
}
]
}