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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: 5-176881147-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176881147&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176881147,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002115.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Glu900Gln",
"transcript": "NM_002115.3",
"protein_id": "NP_002106.2",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 923,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292432.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002115.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Glu900Gln",
"transcript": "ENST00000292432.10",
"protein_id": "ENSP00000292432.5",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 923,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002115.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292432.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "n.1710G>C",
"hgvs_p": null,
"transcript": "ENST00000506834.5",
"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": "ENST00000506834.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Glu900Gln",
"transcript": "ENST00000874508.1",
"protein_id": "ENSP00000544567.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 923,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874508.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2692G>C",
"hgvs_p": "p.Glu898Gln",
"transcript": "ENST00000970949.1",
"protein_id": "ENSP00000641008.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 921,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970949.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2692G>C",
"hgvs_p": "p.Glu898Gln",
"transcript": "ENST00000970955.1",
"protein_id": "ENSP00000641014.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 921,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970955.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2674G>C",
"hgvs_p": "p.Glu892Gln",
"transcript": "ENST00000970953.1",
"protein_id": "ENSP00000641012.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 915,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970953.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2593G>C",
"hgvs_p": "p.Glu865Gln",
"transcript": "ENST00000970952.1",
"protein_id": "ENSP00000641011.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 888,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970952.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2578G>C",
"hgvs_p": "p.Glu860Gln",
"transcript": "ENST00000970951.1",
"protein_id": "ENSP00000641010.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 883,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970951.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2464G>C",
"hgvs_p": "p.Glu822Gln",
"transcript": "ENST00000970948.1",
"protein_id": "ENSP00000641007.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 845,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970948.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.2464G>C",
"hgvs_p": "p.Glu822Gln",
"transcript": "ENST00000970950.1",
"protein_id": "ENSP00000641009.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 845,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970950.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "c.1930G>C",
"hgvs_p": "p.Glu644Gln",
"transcript": "ENST00000970954.1",
"protein_id": "ENSP00000641013.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 667,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970954.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC5A",
"gene_hgnc_id": 12567,
"hgvs_c": "c.*1261C>G",
"hgvs_p": null,
"transcript": "NM_133369.3",
"protein_id": "NP_588610.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329542.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133369.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC5A",
"gene_hgnc_id": 12567,
"hgvs_c": "c.*1261C>G",
"hgvs_p": null,
"transcript": "ENST00000329542.9",
"protein_id": "ENSP00000332737.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133369.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329542.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC5A",
"gene_hgnc_id": 12567,
"hgvs_c": "c.*1261C>G",
"hgvs_p": null,
"transcript": "ENST00000509580.2",
"protein_id": "ENSP00000421795.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509580.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC5A",
"gene_hgnc_id": 12567,
"hgvs_c": "c.*1261C>G",
"hgvs_p": null,
"transcript": "XM_006714928.2",
"protein_id": "XP_006714991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714928.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000514666.1",
"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": "ENST00000514666.1"
}
],
"gene_symbol": "HK3",
"gene_hgnc_id": 4925,
"dbsnp": "rs546596860",
"frequency_reference_population": 0.000006564178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656418,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8178107142448425,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.772,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1836,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.659,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002115.3",
"gene_symbol": "HK3",
"hgnc_id": 4925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Glu900Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133369.3",
"gene_symbol": "UNC5A",
"hgnc_id": 12567,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1261C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}