← 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: 10-119169236-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119169236&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PRDX3",
"hgnc_id": 9354,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Gln220*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_006793.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_score": 9,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "10",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive 32,Spinocerebellar ataxia",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Q",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 680,
"cds_end": null,
"cds_length": 771,
"cds_start": 658,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006793.5",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Gln220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298510.4",
"protein_coding": true,
"protein_id": "NP_006784.1",
"strand": false,
"transcript": "NM_006793.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Q",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 680,
"cds_end": null,
"cds_length": 771,
"cds_start": 658,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000298510.4",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Gln220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006793.5",
"protein_coding": true,
"protein_id": "ENSP00000298510.2",
"strand": false,
"transcript": "ENST00000298510.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000494433.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "n.1753C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494433.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 305,
"aa_ref": "Q",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 827,
"cds_end": null,
"cds_length": 918,
"cds_start": 805,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865262.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Gln269*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535321.1",
"strand": false,
"transcript": "ENST00000865262.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 267,
"aa_ref": "Q",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 718,
"cds_end": null,
"cds_length": 804,
"cds_start": 691,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865257.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Gln231*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535316.1",
"strand": false,
"transcript": "ENST00000865257.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 261,
"aa_ref": "Q",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 671,
"cds_end": null,
"cds_length": 786,
"cds_start": 658,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865260.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Gln220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535319.1",
"strand": false,
"transcript": "ENST00000865260.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 254,
"aa_ref": "Q",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 667,
"cds_end": null,
"cds_length": 765,
"cds_start": 658,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865261.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Gln220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535320.1",
"strand": false,
"transcript": "ENST00000865261.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Q",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 665,
"cds_end": null,
"cds_length": 756,
"cds_start": 643,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938900.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608959.1",
"strand": false,
"transcript": "ENST00000938900.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Q",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 703,
"cds_end": null,
"cds_length": 741,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938897.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Gln210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608956.1",
"strand": false,
"transcript": "ENST00000938897.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 213,
"aa_ref": "Q",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 566,
"cds_end": null,
"cds_length": 642,
"cds_start": 529,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938898.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Gln177*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608957.1",
"strand": false,
"transcript": "ENST00000938898.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 210,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 557,
"cds_end": null,
"cds_length": 633,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938899.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608958.1",
"strand": false,
"transcript": "ENST00000938899.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 202,
"aa_ref": "Q",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 523,
"cds_end": null,
"cds_length": 609,
"cds_start": 496,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865258.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Gln166*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535317.1",
"strand": false,
"transcript": "ENST00000865258.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 119,
"aa_ref": "Q",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 269,
"cds_end": null,
"cds_length": 360,
"cds_start": 247,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865259.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Gln83*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535318.1",
"strand": false,
"transcript": "ENST00000865259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 198,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": null,
"cds_end": null,
"cds_length": 597,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001302272.2",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.552-703C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289201.1",
"strand": false,
"transcript": "NM_001302272.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": 501,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865263.1",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "c.448-703C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535322.1",
"strand": false,
"transcript": "ENST00000865263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_126102.2",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "n.547C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_126102.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_126103.2",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "n.405C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_126103.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_126105.2",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_126105.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_126106.2",
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"hgvs_c": "n.148C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_126106.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs925412397",
"effect": "stop_gained",
"frequency_reference_population": 0.0000037192558,
"gene_hgnc_id": 9354,
"gene_symbol": "PRDX3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273764,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131479,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive 32",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.944,
"pos": 119169236,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006793.5"
}
]
}