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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: 17-35183460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35183460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35183460,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000394570.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp",
"transcript": "NM_001267052.2",
"protein_id": "NP_001253981.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "ENST00000394570.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp",
"transcript": "ENST00000394570.7",
"protein_id": "ENSP00000378071.2",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "NM_001267052.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Arg724Trp",
"transcript": "ENST00000591048.2",
"protein_id": "ENSP00000468335.1",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 850,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2413C>T",
"hgvs_p": "p.Arg805Trp",
"transcript": "NM_173167.3",
"protein_id": "NP_775259.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 931,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2413C>T",
"hgvs_p": "p.Arg805Trp",
"transcript": "ENST00000268876.9",
"protein_id": "ENSP00000268876.4",
"transcript_support_level": 5,
"aa_start": 805,
"aa_end": null,
"aa_length": 931,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp",
"transcript": "NM_001033576.2",
"protein_id": "NP_001028748.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 5671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Arg724Trp",
"transcript": "NM_001308281.1",
"protein_id": "NP_001295210.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 850,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Arg724Trp",
"transcript": "XM_017024234.2",
"protein_id": "XP_016879723.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 850,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"dbsnp": "rs370424081",
"frequency_reference_population": 0.00012011186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 192,
"gnomad_exomes_af": 0.000122374,
"gnomad_genomes_af": 0.0000986038,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9449424147605896,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.789,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.508,
"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": 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": "ENST00000394570.7",
"gene_symbol": "UNC45B",
"hgnc_id": 14304,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp"
}
],
"clinvar_disease": "Cataract 43",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cataract 43",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}