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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: 14-23522137-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23522137&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23522137,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033400.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7544G>A",
"hgvs_p": "p.Arg2515His",
"transcript": "NM_033400.3",
"protein_id": "NP_207646.2",
"transcript_support_level": null,
"aa_start": 2515,
"aa_end": null,
"aa_length": 2572,
"cds_start": 7544,
"cds_end": null,
"cds_length": 7719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419474.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033400.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7544G>A",
"hgvs_p": "p.Arg2515His",
"transcript": "ENST00000419474.5",
"protein_id": "ENSP00000413418.2",
"transcript_support_level": 5,
"aa_start": 2515,
"aa_end": null,
"aa_length": 2572,
"cds_start": 7544,
"cds_end": null,
"cds_length": 7719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033400.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419474.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7556G>A",
"hgvs_p": "p.Arg2519His",
"transcript": "XM_017021716.3",
"protein_id": "XP_016877205.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7556,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021716.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7556G>A",
"hgvs_p": "p.Arg2519His",
"transcript": "XM_047431818.1",
"protein_id": "XP_047287774.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7556,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431818.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7556G>A",
"hgvs_p": "p.Arg2519His",
"transcript": "XM_047431819.1",
"protein_id": "XP_047287775.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7556,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431819.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7556G>A",
"hgvs_p": "p.Arg2519His",
"transcript": "XM_047431820.1",
"protein_id": "XP_047287776.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7556,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431820.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7556G>A",
"hgvs_p": "p.Arg2519His",
"transcript": "XM_047431821.1",
"protein_id": "XP_047287777.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7556,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431821.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7544G>A",
"hgvs_p": "p.Arg2515His",
"transcript": "XM_011537245.4",
"protein_id": "XP_011535547.1",
"transcript_support_level": null,
"aa_start": 2515,
"aa_end": null,
"aa_length": 2572,
"cds_start": 7544,
"cds_end": null,
"cds_length": 7719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537245.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7466G>A",
"hgvs_p": "p.Arg2489His",
"transcript": "XM_047431822.1",
"protein_id": "XP_047287778.1",
"transcript_support_level": null,
"aa_start": 2489,
"aa_end": null,
"aa_length": 2546,
"cds_start": 7466,
"cds_end": null,
"cds_length": 7641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431822.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7454G>A",
"hgvs_p": "p.Arg2485His",
"transcript": "XM_047431823.1",
"protein_id": "XP_047287779.1",
"transcript_support_level": null,
"aa_start": 2485,
"aa_end": null,
"aa_length": 2542,
"cds_start": 7454,
"cds_end": null,
"cds_length": 7629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431823.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.7415G>A",
"hgvs_p": "p.Arg2472His",
"transcript": "XM_047431824.1",
"protein_id": "XP_047287780.1",
"transcript_support_level": null,
"aa_start": 2472,
"aa_end": null,
"aa_length": 2529,
"cds_start": 7415,
"cds_end": null,
"cds_length": 7590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431824.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.4634G>A",
"hgvs_p": "p.Arg1545His",
"transcript": "XM_005268135.4",
"protein_id": "XP_005268192.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4634,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268135.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.4634G>A",
"hgvs_p": "p.Arg1545His",
"transcript": "XM_011537252.3",
"protein_id": "XP_011535554.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4634,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537252.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.4394G>A",
"hgvs_p": "p.Arg1465His",
"transcript": "XM_017021718.3",
"protein_id": "XP_016877207.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4394,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021718.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZFHX2",
"gene_hgnc_id": 20152,
"hgvs_c": "c.4394G>A",
"hgvs_p": "p.Arg1465His",
"transcript": "XM_047431825.1",
"protein_id": "XP_047287781.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4394,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431825.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFHX2-AS1",
"gene_hgnc_id": 52658,
"hgvs_c": "n.238+7721C>T",
"hgvs_p": null,
"transcript": "ENST00000553985.1",
"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": "pseudogene",
"feature": "ENST00000553985.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFHX2-AS1",
"gene_hgnc_id": 52658,
"hgvs_c": "n.1068+7721C>T",
"hgvs_p": null,
"transcript": "ENST00000554403.1",
"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": "ENST00000554403.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFHX2-AS1",
"gene_hgnc_id": 52658,
"hgvs_c": "n.465+7721C>T",
"hgvs_p": null,
"transcript": "ENST00000556354.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000556354.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THTPA",
"gene_hgnc_id": 18987,
"hgvs_c": "n.465+7721C>T",
"hgvs_p": null,
"transcript": "NR_046051.1",
"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": "NR_046051.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THTPA",
"gene_hgnc_id": 18987,
"hgvs_c": "n.245+7721C>T",
"hgvs_p": null,
"transcript": "NR_046052.1",
"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": "NR_046052.1"
}
],
"gene_symbol": "ZFHX2",
"gene_hgnc_id": 20152,
"dbsnp": "rs111511226",
"frequency_reference_population": 0.00007146238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000589961,
"gnomad_genomes_af": 0.00018384,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1579209864139557,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.1612,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.034,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_033400.3",
"gene_symbol": "ZFHX2",
"hgnc_id": 20152,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.7544G>A",
"hgvs_p": "p.Arg2515His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000553985.1",
"gene_symbol": "ZFHX2-AS1",
"hgnc_id": 52658,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238+7721C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_046051.1",
"gene_symbol": "THTPA",
"hgnc_id": 18987,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.465+7721C>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
}