← 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: 10-119168521-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119168521&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119168521,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006793.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Pro244Thr",
"transcript": "NM_006793.5",
"protein_id": "NP_006784.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 256,
"cds_start": 730,
"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": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Pro244Thr",
"transcript": "ENST00000298510.4",
"protein_id": "ENSP00000298510.2",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 256,
"cds_start": 730,
"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": 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.1825C>A",
"hgvs_p": null,
"transcript": "ENST00000494433.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000494433.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000865262.1",
"protein_id": "ENSP00000535321.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 305,
"cds_start": 877,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Pro255Thr",
"transcript": "ENST00000865257.1",
"protein_id": "ENSP00000535316.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 267,
"cds_start": 763,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.745C>A",
"hgvs_p": "p.Pro249Thr",
"transcript": "ENST00000865260.1",
"protein_id": "ENSP00000535319.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 261,
"cds_start": 745,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.Pro242Thr",
"transcript": "ENST00000865261.1",
"protein_id": "ENSP00000535320.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 254,
"cds_start": 724,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Pro239Thr",
"transcript": "ENST00000938900.1",
"protein_id": "ENSP00000608959.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 251,
"cds_start": 715,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.700C>A",
"hgvs_p": "p.Pro234Thr",
"transcript": "ENST00000938897.1",
"protein_id": "ENSP00000608956.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 246,
"cds_start": 700,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.601C>A",
"hgvs_p": "p.Pro201Thr",
"transcript": "ENST00000938898.1",
"protein_id": "ENSP00000608957.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 213,
"cds_start": 601,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Pro198Thr",
"transcript": "ENST00000938899.1",
"protein_id": "ENSP00000608958.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 210,
"cds_start": 592,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Pro190Thr",
"transcript": "ENST00000865258.1",
"protein_id": "ENSP00000535317.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 568,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.460C>A",
"hgvs_p": "p.Pro154Thr",
"transcript": "ENST00000865263.1",
"protein_id": "ENSP00000535322.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 166,
"cds_start": 460,
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.319C>A",
"hgvs_p": "p.Pro107Thr",
"transcript": "ENST00000865259.1",
"protein_id": "ENSP00000535318.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 119,
"cds_start": 319,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "c.564C>A",
"hgvs_p": "p.Val188Val",
"transcript": "NM_001302272.2",
"protein_id": "NP_001289201.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 198,
"cds_start": 564,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.619C>A",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.477C>A",
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.469C>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDX3",
"gene_hgnc_id": 9354,
"hgvs_c": "n.220C>A",
"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": "rs768037445",
"frequency_reference_population": 0.0000013684308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136843,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2003539800643921,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.2246,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.253,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006793.5",
"gene_symbol": "PRDX3",
"hgnc_id": 9354,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Pro244Thr"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}