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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: 7-95585665-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95585665&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95585665,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002612.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1212C>A",
"hgvs_p": "p.Asn404Lys",
"transcript": "NM_002612.4",
"protein_id": "NP_002603.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 411,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000005178.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002612.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1212C>A",
"hgvs_p": "p.Asn404Lys",
"transcript": "ENST00000005178.6",
"protein_id": "ENSP00000005178.5",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 411,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002612.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000005178.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1212C>A",
"hgvs_p": "p.Asn404Lys",
"transcript": "ENST00000886049.1",
"protein_id": "ENSP00000556108.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 411,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886049.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1206C>A",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000886050.1",
"protein_id": "ENSP00000556109.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 409,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886050.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1200C>A",
"hgvs_p": "p.Asn400Lys",
"transcript": "ENST00000886051.1",
"protein_id": "ENSP00000556110.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886051.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Asn391Lys",
"transcript": "ENST00000943773.1",
"protein_id": "ENSP00000613832.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 398,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943773.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Asn386Lys",
"transcript": "ENST00000943769.1",
"protein_id": "ENSP00000613828.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 393,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943769.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1134C>A",
"hgvs_p": "p.Asn378Lys",
"transcript": "ENST00000943768.1",
"protein_id": "ENSP00000613827.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 385,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943768.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1113C>A",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000943772.1",
"protein_id": "ENSP00000613831.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 378,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943772.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Asn367Lys",
"transcript": "ENST00000943771.1",
"protein_id": "ENSP00000613830.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 374,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943771.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.1098C>A",
"hgvs_p": "p.Asn366Lys",
"transcript": "ENST00000943770.1",
"protein_id": "ENSP00000613829.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 373,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943770.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Asn216Lys",
"transcript": "ENST00000943774.1",
"protein_id": "ENSP00000613833.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 648,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"hgvs_c": "n.846C>A",
"hgvs_p": null,
"transcript": "ENST00000473796.1",
"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": "ENST00000473796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDK4-AS1",
"gene_hgnc_id": 55767,
"hgvs_c": "n.37-27386G>T",
"hgvs_p": null,
"transcript": "ENST00000665332.1",
"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": "ENST00000665332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDK4-AS1",
"gene_hgnc_id": 55767,
"hgvs_c": "n.90-21275G>T",
"hgvs_p": null,
"transcript": "ENST00000667350.1",
"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": "ENST00000667350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDK4-AS1",
"gene_hgnc_id": 55767,
"hgvs_c": "n.63-24879G>T",
"hgvs_p": null,
"transcript": "ENST00000669019.1",
"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": "ENST00000669019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDK4-AS1",
"gene_hgnc_id": 55767,
"hgvs_c": "n.544+12001G>T",
"hgvs_p": null,
"transcript": "ENST00000837345.1",
"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": "ENST00000837345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDK4-AS1",
"gene_hgnc_id": 55767,
"hgvs_c": "n.395-21275G>T",
"hgvs_p": null,
"transcript": "ENST00000837346.1",
"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": "ENST00000837346.1"
}
],
"gene_symbol": "PDK4",
"gene_hgnc_id": 8812,
"dbsnp": "rs1228730833",
"frequency_reference_population": 6.860536e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86054e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06047222018241882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.198,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.062,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002612.4",
"gene_symbol": "PDK4",
"hgnc_id": 8812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1212C>A",
"hgvs_p": "p.Asn404Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000665332.1",
"gene_symbol": "PDK4-AS1",
"hgnc_id": 55767,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.37-27386G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}