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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: 22-38294458-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38294458&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSNK1E",
"hgnc_id": 2453,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001894.5",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPTEP2-CSNK1E",
"hgnc_id": 53829,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001289912.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.1564,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "22",
"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": 0.03711029887199402,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_152221.3",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396832.6",
"protein_coding": true,
"protein_id": "NP_689407.1",
"strand": false,
"transcript": "NM_152221.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396832.6",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152221.3",
"protein_coding": true,
"protein_id": "ENSP00000380044.1",
"strand": false,
"transcript": "ENST00000396832.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000359867.7",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352929.3",
"strand": false,
"transcript": "ENST00000359867.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000400206.7",
"gene_hgnc_id": 53829,
"gene_symbol": "TPTEP2-CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383067.2",
"strand": false,
"transcript": "ENST00000400206.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001289912.2",
"gene_hgnc_id": 53829,
"gene_symbol": "TPTEP2-CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276841.1",
"strand": false,
"transcript": "NM_001289912.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001894.5",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001885.1",
"strand": false,
"transcript": "NM_001894.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000403904.5",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384074.1",
"strand": false,
"transcript": "ENST00000403904.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3790,
"cdna_start": 3425,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887326.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557385.1",
"strand": false,
"transcript": "ENST00000887326.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887327.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557386.1",
"strand": false,
"transcript": "ENST00000887327.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887328.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557387.1",
"strand": false,
"transcript": "ENST00000887328.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922680.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592739.1",
"strand": false,
"transcript": "ENST00000922680.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922681.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592740.1",
"strand": false,
"transcript": "ENST00000922681.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922683.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592742.1",
"strand": false,
"transcript": "ENST00000922683.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922685.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592744.1",
"strand": false,
"transcript": "ENST00000922685.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922686.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592745.1",
"strand": false,
"transcript": "ENST00000922686.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967530.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637589.1",
"strand": false,
"transcript": "ENST00000967530.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967532.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637591.1",
"strand": false,
"transcript": "ENST00000967532.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967533.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637592.1",
"strand": false,
"transcript": "ENST00000967533.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967534.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637593.1",
"strand": false,
"transcript": "ENST00000967534.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1251,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967535.1",
"gene_hgnc_id": 2453,
"gene_symbol": "CSNK1E",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637594.1",
"strand": false,
"transcript": "ENST00000967535.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
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