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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: 17-10547738-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=10547738&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 10547738,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000245503.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_017534.6",
"protein_id": "NP_060004.3",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1941,
"cds_start": 183,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": "ENST00000245503.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000245503.10",
"protein_id": "ENSP00000245503.5",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 1941,
"cds_start": 183,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": "NM_017534.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000532183.6",
"protein_id": "ENSP00000433944.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 708,
"cds_start": 183,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000622564.4",
"protein_id": "ENSP00000482463.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 708,
"cds_start": 183,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001100112.2",
"protein_id": "NP_001093582.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1941,
"cds_start": 183,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000397183.6",
"protein_id": "ENSP00000380367.2",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 1941,
"cds_start": 183,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000420805.1",
"protein_id": "ENSP00000399348.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 181,
"cds_start": 183,
"cds_end": null,
"cds_length": 547,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 675,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MYHAS",
"gene_hgnc_id": 50609,
"hgvs_c": "n.531-60616C>T",
"hgvs_p": null,
"transcript": "ENST00000584139.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1460,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYHAS",
"gene_hgnc_id": 50609,
"hgvs_c": "n.156-19799C>T",
"hgvs_p": null,
"transcript": "ENST00000587182.3",
"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": 3928,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYHAS",
"gene_hgnc_id": 50609,
"hgvs_c": "n.307-60616C>T",
"hgvs_p": null,
"transcript": "ENST00000715356.1",
"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": 1870,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYHAS",
"gene_hgnc_id": 50609,
"hgvs_c": "n.170-50335C>T",
"hgvs_p": null,
"transcript": "ENST00000850668.1",
"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": 1576,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYHAS",
"gene_hgnc_id": 50609,
"hgvs_c": "n.168-19799C>T",
"hgvs_p": null,
"transcript": "NR_125367.1",
"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": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.-153G>A",
"hgvs_p": null,
"transcript": "ENST00000578017.5",
"protein_id": "ENSP00000463668.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": -4,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"dbsnp": "rs142539913",
"frequency_reference_population": 0.010067601,
"hom_count_reference_population": 113,
"allele_count_reference_population": 16251,
"gnomad_exomes_af": 0.0103757,
"gnomad_genomes_af": 0.00711069,
"gnomad_exomes_ac": 15168,
"gnomad_genomes_ac": 1083,
"gnomad_exomes_homalt": 107,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.886,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000245503.10",
"gene_symbol": "MYH2",
"hgnc_id": 7572,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Thr61Thr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000584139.2",
"gene_symbol": "MYHAS",
"hgnc_id": 50609,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.531-60616C>T",
"hgvs_p": null
}
],
"clinvar_disease": " and ophthalmoplegia, proximal,Myopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|not provided|Myopathy, proximal, and ophthalmoplegia",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}