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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: 14-52553587-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52553587&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 52553587,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001353361.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "NM_001099652.2",
"protein_id": "NP_001093122.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 429,
"cds_start": 440,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321662.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099652.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "ENST00000321662.11",
"protein_id": "ENSP00000315106.6",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 429,
"cds_start": 440,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099652.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321662.11"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Ala100Glu",
"transcript": "ENST00000542169.6",
"protein_id": "ENSP00000439165.2",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 398,
"cds_start": 299,
"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": "ENST00000542169.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "NM_001353361.2",
"protein_id": "NP_001340290.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 445,
"cds_start": 440,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353361.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "ENST00000866179.1",
"protein_id": "ENSP00000536238.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 354,
"cds_start": 440,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866179.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"transcript": "ENST00000555622.1",
"protein_id": "ENSP00000452563.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 202,
"cds_start": 167,
"cds_end": null,
"cds_length": 611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555622.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "XM_024449541.2",
"protein_id": "XP_024305309.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 242,
"cds_start": 440,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449541.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "XM_047431280.1",
"protein_id": "XP_047287236.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 242,
"cds_start": 440,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431280.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu",
"transcript": "XM_047431281.1",
"protein_id": "XP_047287237.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 241,
"cds_start": 440,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "n.752C>A",
"hgvs_p": null,
"transcript": "NR_148417.2",
"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_148417.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"hgvs_c": "n.752C>A",
"hgvs_p": null,
"transcript": "XR_007064006.1",
"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": "XR_007064006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.-426G>T",
"hgvs_p": null,
"transcript": "ENST00000936707.1",
"protein_id": "ENSP00000606766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936707.1"
}
],
"gene_symbol": "GPR137C",
"gene_hgnc_id": 25445,
"dbsnp": "rs777750722",
"frequency_reference_population": 0.0000150749875,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.000015075,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7252299785614014,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.8708,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.917,
"phylop100way_prediction": "Uncertain_significance",
"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_001353361.2",
"gene_symbol": "GPR137C",
"hgnc_id": 25445,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Ala147Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000936707.1",
"gene_symbol": "TXNDC16",
"hgnc_id": 19965,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-426G>T",
"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
}