← Back to variant description
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: 10-119173759-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119173759&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119173759,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006793.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "NM_006793.5",
"protein_id": "NP_006784.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 256,
"cds_start": 425,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298510.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006793.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000298510.4",
"protein_id": "ENSP00000298510.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 256,
"cds_start": 425,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006793.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298510.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000865262.1",
"protein_id": "ENSP00000535321.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 305,
"cds_start": 572,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865262.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Ala153Gly",
"transcript": "ENST00000865257.1",
"protein_id": "ENSP00000535316.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 267,
"cds_start": 458,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865257.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000865260.1",
"protein_id": "ENSP00000535319.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 425,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865260.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000865261.1",
"protein_id": "ENSP00000535320.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 254,
"cds_start": 425,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865261.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000938900.1",
"protein_id": "ENSP00000608959.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 251,
"cds_start": 425,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938900.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.395C>G",
"hgvs_p": "p.Ala132Gly",
"transcript": "ENST00000938897.1",
"protein_id": "ENSP00000608956.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 246,
"cds_start": 395,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938897.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.296C>G",
"hgvs_p": "p.Ala99Gly",
"transcript": "ENST00000938898.1",
"protein_id": "ENSP00000608957.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 213,
"cds_start": 296,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938898.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000938899.1",
"protein_id": "ENSP00000608958.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 210,
"cds_start": 287,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938899.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ala88Gly",
"transcript": "ENST00000865258.1",
"protein_id": "ENSP00000535317.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 202,
"cds_start": 263,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865258.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "NM_001302272.2",
"protein_id": "NP_001289201.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 198,
"cds_start": 425,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302272.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000865263.1",
"protein_id": "ENSP00000535322.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 166,
"cds_start": 425,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.37-1274C>G",
"hgvs_p": null,
"transcript": "ENST00000865259.1",
"protein_id": "ENSP00000535318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865259.1"
},
{
"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": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.436C>G",
"hgvs_p": null,
"transcript": "ENST00000463322.1",
"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": "ENST00000463322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.314C>G",
"hgvs_p": null,
"transcript": "NR_126102.2",
"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": "pseudogene",
"feature": "NR_126102.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.172C>G",
"hgvs_p": null,
"transcript": "NR_126103.2",
"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": "pseudogene",
"feature": "NR_126103.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.164C>G",
"hgvs_p": null,
"transcript": "NR_126105.2",
"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": "pseudogene",
"feature": "NR_126105.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.70+3383C>G",
"hgvs_p": null,
"transcript": "NR_126106.2",
"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": "pseudogene",
"feature": "NR_126106.2"
}
],
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"dbsnp": "rs202061531",
"frequency_reference_population": 0.00013337535,
"hom_count_reference_population": 0,
"allele_count_reference_population": 215,
"gnomad_exomes_af": 0.000139739,
"gnomad_genomes_af": 0.0000723056,
"gnomad_exomes_ac": 204,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6408233046531677,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4709,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.754,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_006793.5",
"gene_symbol": "PRDX3",
"hgnc_id": 9354,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly"
}
],
"clinvar_disease": " autosomal recessive 32,Spinocerebellar ataxia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive 32|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}