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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: 17-75764050-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75764050&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75764050,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000588479.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "NM_000154.2",
"protein_id": "NP_000145.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 392,
"cds_start": 202,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": "ENST00000588479.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "ENST00000588479.6",
"protein_id": "ENSP00000465930.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 392,
"cds_start": 202,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": "NM_000154.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000586244.1",
"protein_id": "ENSP00000468288.1",
"transcript_support_level": 1,
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "NM_001381985.1",
"protein_id": "NP_001368914.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 392,
"cds_start": 202,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "ENST00000225614.6",
"protein_id": "ENSP00000225614.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 392,
"cds_start": 202,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "ENST00000592997.6",
"protein_id": "ENSP00000464765.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 362,
"cds_start": 202,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000587707.2",
"protein_id": "ENSP00000468341.2",
"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": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.199C>T",
"hgvs_p": null,
"transcript": "ENST00000589030.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.223C>T",
"hgvs_p": null,
"transcript": "ENST00000592494.1",
"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": 1121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"dbsnp": "rs1365349586",
"frequency_reference_population": 0.000010024535,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000103884,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.910988986492157,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.685,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.338,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588479.6",
"gene_symbol": "GALK1",
"hgnc_id": 4118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys"
}
],
"clinvar_disease": "Deficiency of galactokinase,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Deficiency of galactokinase|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}