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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: 14-60121235-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60121235&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60121235,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330177.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1982A>C",
"hgvs_p": "p.Gln661Pro",
"transcript": "NM_001330177.2",
"protein_id": "NP_001317106.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000406854.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330177.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1982A>C",
"hgvs_p": "p.Gln661Pro",
"transcript": "ENST00000406854.6",
"protein_id": "ENSP00000384801.1",
"transcript_support_level": 5,
"aa_start": 661,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330177.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406854.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1934A>C",
"hgvs_p": "p.Gln645Pro",
"transcript": "ENST00000868338.1",
"protein_id": "ENSP00000538397.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1934,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868338.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1562A>C",
"hgvs_p": "p.Gln521Pro",
"transcript": "ENST00000868337.1",
"protein_id": "ENSP00000538396.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1562,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868337.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1514A>C",
"hgvs_p": "p.Gln505Pro",
"transcript": "ENST00000913742.1",
"protein_id": "ENSP00000583801.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1514,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913742.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1280A>C",
"hgvs_p": "p.Gln427Pro",
"transcript": "NM_022495.5",
"protein_id": "NP_071940.4",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 938,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022495.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1280A>C",
"hgvs_p": "p.Gln427Pro",
"transcript": "ENST00000317623.8",
"protein_id": "ENSP00000317396.4",
"transcript_support_level": 5,
"aa_start": 427,
"aa_end": null,
"aa_length": 938,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317623.8"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1280A>C",
"hgvs_p": "p.Gln427Pro",
"transcript": "ENST00000406949.5",
"protein_id": "ENSP00000385201.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 873,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406949.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.236A>C",
"hgvs_p": "p.Gln79Pro",
"transcript": "ENST00000554534.5",
"protein_id": "ENSP00000451836.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 117,
"cds_start": 236,
"cds_end": null,
"cds_length": 356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554534.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1982A>C",
"hgvs_p": "p.Gln661Pro",
"transcript": "XM_047431699.1",
"protein_id": "XP_047287655.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431699.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.1982A>C",
"hgvs_p": "p.Gln661Pro",
"transcript": "XM_047431700.1",
"protein_id": "XP_047287656.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 720,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "n.695A>C",
"hgvs_p": null,
"transcript": "ENST00000483571.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000483571.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "n.290A>C",
"hgvs_p": null,
"transcript": "ENST00000555740.5",
"protein_id": "ENSP00000450441.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000555740.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "n.107A>C",
"hgvs_p": null,
"transcript": "ENST00000555929.1",
"protein_id": "ENSP00000452234.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000555929.1"
}
],
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"dbsnp": "rs150511705",
"frequency_reference_population": 6.8693396e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86934e-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": 0.6804976463317871,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.403,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.708,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330177.2",
"gene_symbol": "PCNX4",
"hgnc_id": 20349,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1982A>C",
"hgvs_p": "p.Gln661Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}