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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: 16-3383278-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3383278&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZSCAN32",
"hgnc_id": 20812,
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001284527.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285329",
"hgnc_id": null,
"hgvs_c": "n.-13+18096C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000575785.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105371059",
"hgnc_id": null,
"hgvs_c": "n.69-13095C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007064949.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.953,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "16",
"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": 0.17067939043045044,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001284527.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396852.9",
"protein_coding": true,
"protein_id": "NP_001271456.1",
"strand": false,
"transcript": "NM_001284527.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396852.9",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001284527.2",
"protein_coding": true,
"protein_id": "ENSP00000380061.4",
"strand": false,
"transcript": "ENST00000396852.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000304926.7",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302502.3",
"strand": false,
"transcript": "ENST00000304926.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575785.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285329",
"hgvs_c": "n.-13+18096C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477472.1",
"strand": true,
"transcript": "ENST00000575785.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853179.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523238.1",
"strand": false,
"transcript": "ENST00000853179.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853180.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523239.1",
"strand": false,
"transcript": "ENST00000853180.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853181.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523240.1",
"strand": false,
"transcript": "ENST00000853181.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853182.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523241.1",
"strand": false,
"transcript": "ENST00000853182.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939891.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609950.1",
"strand": false,
"transcript": "ENST00000939891.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1668,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970393.1",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Lys556Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640452.1",
"strand": false,
"transcript": "ENST00000970393.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 624,
"aa_ref": "K",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1449,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324346.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1449G>C",
"hgvs_p": "p.Lys483Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311275.1",
"strand": false,
"transcript": "NM_001324346.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 564,
"aa_ref": "K",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1269,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324343.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1269G>C",
"hgvs_p": "p.Lys423Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311272.1",
"strand": false,
"transcript": "NM_001324343.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324340.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311269.1",
"strand": false,
"transcript": "NM_001324340.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324341.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311270.1",
"strand": false,
"transcript": "NM_001324341.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324342.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311271.1",
"strand": false,
"transcript": "NM_001324342.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324344.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311273.1",
"strand": false,
"transcript": "NM_001324344.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324345.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311274.1",
"strand": false,
"transcript": "NM_001324345.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_017810.4",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060280.2",
"strand": false,
"transcript": "NM_017810.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 408,
"aa_ref": "K",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1227,
"cds_start": 801,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284528.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.801G>C",
"hgvs_p": "p.Lys267Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271457.1",
"strand": false,
"transcript": "NM_001284528.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 408,
"aa_ref": "K",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1227,
"cds_start": 801,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001284529.2",
"gene_hgnc_id": 20812,
"gene_symbol": "ZSCAN32",
"hgvs_c": "c.801G>C",
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}