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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: 17-10544100-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=10544100&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 10544100,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000245503.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "NM_017534.6",
"protein_id": "NP_060004.3",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 1941,
"cds_start": 533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": "ENST00000245503.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "ENST00000245503.10",
"protein_id": "ENSP00000245503.5",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 1941,
"cds_start": 533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": "NM_017534.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "ENST00000532183.6",
"protein_id": "ENSP00000433944.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 708,
"cds_start": 533,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "ENST00000622564.4",
"protein_id": "ENSP00000482463.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 708,
"cds_start": 533,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "NM_001100112.2",
"protein_id": "NP_001093582.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 1941,
"cds_start": 533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "ENST00000397183.6",
"protein_id": "ENSP00000380367.2",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 1941,
"cds_start": 533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile",
"transcript": "ENST00000420805.1",
"protein_id": "ENSP00000399348.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 181,
"cds_start": 533,
"cds_end": null,
"cds_length": 547,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Ile",
"transcript": "ENST00000578017.5",
"protein_id": "ENSP00000463668.1",
"transcript_support_level": 4,
"aa_start": 99,
"aa_end": null,
"aa_length": 154,
"cds_start": 296,
"cds_end": null,
"cds_length": 465,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 572,
"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.531-64254G>A",
"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.156-23437G>A",
"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.307-64254G>A",
"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.170-53973G>A",
"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.168-23437G>A",
"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
}
],
"gene_symbol": "MYH2",
"gene_hgnc_id": 7572,
"dbsnp": "rs756953958",
"frequency_reference_population": 0.00001487068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000150501,
"gnomad_genomes_af": 0.0000131465,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9611342549324036,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6499999761581421,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.947,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.979031975332259,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3_Strong",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000245503.10",
"gene_symbol": "MYH2",
"hgnc_id": 7572,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Ile"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000584139.2",
"gene_symbol": "MYHAS",
"hgnc_id": 50609,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.531-64254G>A",
"hgvs_p": null
}
],
"clinvar_disease": " and ophthalmoplegia, proximal,MYH2-related disorder,Myopathy",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Myopathy, proximal, and ophthalmoplegia|MYH2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}