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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: 17-18159278-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18159278&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18159278,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016239.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.9160C>G",
"hgvs_p": "p.Pro3054Ala",
"transcript": "NM_016239.4",
"protein_id": "NP_057323.3",
"transcript_support_level": null,
"aa_start": 3054,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9160,
"cds_end": null,
"cds_length": 10593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647165.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016239.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.9160C>G",
"hgvs_p": "p.Pro3054Ala",
"transcript": "ENST00000647165.2",
"protein_id": "ENSP00000495481.1",
"transcript_support_level": null,
"aa_start": 3054,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9160,
"cds_end": null,
"cds_length": 10593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647165.2"
},
{
"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.97C>G",
"hgvs_p": null,
"transcript": "ENST00000433411.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000433411.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.952C>G",
"hgvs_p": "p.Pro318Ala",
"transcript": "ENST00000418233.7",
"protein_id": "ENSP00000408800.3",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 797,
"cds_start": 952,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418233.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.952C>G",
"hgvs_p": "p.Pro318Ala",
"transcript": "ENST00000644795.1",
"protein_id": "ENSP00000495720.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 716,
"cds_start": 952,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644795.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.22C>G",
"hgvs_p": "p.Pro8Ala",
"transcript": "ENST00000556535.5",
"protein_id": "ENSP00000451782.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 152,
"cds_start": 22,
"cds_end": null,
"cds_length": 460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556535.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.22C>G",
"hgvs_p": "p.Pro8Ala",
"transcript": "ENST00000578472.5",
"protein_id": "ENSP00000467989.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 122,
"cds_start": 22,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578472.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.9163C>G",
"hgvs_p": "p.Pro3055Ala",
"transcript": "XM_017024715.3",
"protein_id": "XP_016880204.1",
"transcript_support_level": null,
"aa_start": 3055,
"aa_end": null,
"aa_length": 3531,
"cds_start": 9163,
"cds_end": null,
"cds_length": 10596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024715.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.9100C>G",
"hgvs_p": "p.Pro3034Ala",
"transcript": "XM_017024714.3",
"protein_id": "XP_016880203.1",
"transcript_support_level": null,
"aa_start": 3034,
"aa_end": null,
"aa_length": 3510,
"cds_start": 9100,
"cds_end": null,
"cds_length": 10533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024714.3"
},
{
"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.62C>G",
"hgvs_p": null,
"transcript": "ENST00000557190.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557190.5"
},
{
"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.22C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557655.5"
},
{
"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.1498C>G",
"hgvs_p": null,
"transcript": "ENST00000642418.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642418.1"
},
{
"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.962C>G",
"hgvs_p": null,
"transcript": "ENST00000643693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000643693.1"
},
{
"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.1894C>G",
"hgvs_p": null,
"transcript": "ENST00000646782.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646782.1"
},
{
"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.1665C>G",
"hgvs_p": null,
"transcript": "ENST00000651214.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651214.1"
},
{
"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+1378C>G",
"hgvs_p": null,
"transcript": "ENST00000445289.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000445289.6"
}
],
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"dbsnp": "rs368760461",
"frequency_reference_population": 0.00004398513,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000198375,
"gnomad_genomes_af": 0.000275761,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.720349133014679,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.296,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_016239.4",
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9160C>G",
"hgvs_p": "p.Pro3054Ala"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 3,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases|Autosomal recessive nonsyndromic hearing loss 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}