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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: 16-87412233-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87412233&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 87412233,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000671377.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.2488G>T",
"hgvs_p": "p.Val830Leu",
"transcript": "NM_015144.3",
"protein_id": "NP_055959.2",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2488,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "ENST00000671377.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.2488G>T",
"hgvs_p": "p.Val830Leu",
"transcript": "ENST00000671377.2",
"protein_id": "ENSP00000499622.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2488,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "NM_015144.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Val693Leu",
"transcript": "ENST00000268616.9",
"protein_id": "ENSP00000268616.4",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 949,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 6911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "n.2107G>T",
"hgvs_p": null,
"transcript": "ENST00000568020.6",
"protein_id": "ENSP00000455431.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.1726G>T",
"hgvs_p": "p.Val576Leu",
"transcript": "ENST00000561928.1",
"protein_id": "ENSP00000456499.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 845,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.2488G>T",
"hgvs_p": "p.Val830Leu",
"transcript": "XM_005255858.4",
"protein_id": "XP_005255915.3",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2488,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Val657Leu",
"transcript": "XM_017023082.3",
"protein_id": "XP_016878571.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 926,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"hgvs_c": "n.3274G>T",
"hgvs_p": null,
"transcript": "XR_243401.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZCCHC14",
"gene_hgnc_id": 24134,
"dbsnp": "rs3748400",
"frequency_reference_population": 0.0000013682717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136827,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26047849655151367,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.1656,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.441,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671377.2",
"gene_symbol": "ZCCHC14",
"hgnc_id": 24134,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2488G>T",
"hgvs_p": "p.Val830Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}