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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: 14-88602876-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88602876&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ZC3H14",
"hgnc_id": 20509,
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_024824.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06800000369548798,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 736,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18153,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024824.5",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251038.10",
"protein_coding": true,
"protein_id": "NP_079100.2",
"strand": true,
"transcript": "NM_024824.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 736,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18153,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000251038.10",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024824.5",
"protein_coding": true,
"protein_id": "ENSP00000251038.5",
"strand": true,
"transcript": "ENST00000251038.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000556000.5",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Thr436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451054.1",
"strand": true,
"transcript": "ENST00000556000.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302216.12",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1280-4367G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307025.8",
"strand": true,
"transcript": "ENST00000302216.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 571,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": 1716,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336693.8",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1253-4367G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338002.4",
"strand": true,
"transcript": "ENST00000336693.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": null,
"cds_end": null,
"cds_length": 921,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318308.10",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.461-4367G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327176.6",
"strand": true,
"transcript": "ENST00000318308.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 735,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18150,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001160103.2",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153575.1",
"strand": true,
"transcript": "NM_001160103.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18138,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326310.2",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313239.1",
"strand": true,
"transcript": "NM_001326310.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4085,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888720.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558779.1",
"strand": true,
"transcript": "ENST00000888720.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 730,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18135,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001160104.2",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153576.1",
"strand": true,
"transcript": "NM_001160104.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 730,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000555755.5",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452475.1",
"strand": true,
"transcript": "ENST00000555755.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 1671,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1530,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888717.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Thr510Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558776.1",
"strand": true,
"transcript": "ENST00000888717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1530,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888729.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Thr510Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558788.1",
"strand": true,
"transcript": "ENST00000888729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 720,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1530,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888723.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Thr510Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558782.1",
"strand": true,
"transcript": "ENST00000888723.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1530,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971949.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Thr510Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642008.1",
"strand": true,
"transcript": "ENST00000971949.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 712,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971947.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Thr521Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642006.1",
"strand": true,
"transcript": "ENST00000971947.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18078,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326307.2",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1488G>A",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313236.1",
"strand": true,
"transcript": "NM_001326307.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 711,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000393514.9",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1488G>A",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377150.5",
"strand": true,
"transcript": "ENST00000393514.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18075,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326296.2",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1488G>A",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313225.1",
"strand": true,
"transcript": "NM_001326296.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000888716.1",
"gene_hgnc_id": 20509,
"gene_symbol": "ZC3H14",
"hgvs_c": "c.1488G>A",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558775.1",
"strand": true,
"transcript": "ENST00000888716.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 706,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18063,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
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"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.556,
"pos": 88602876,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.068,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_024824.5"
}
]
}