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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: 22-38294506-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38294506&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38294506,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001894.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "NM_152221.3",
"protein_id": "NP_689407.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396832.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152221.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000396832.6",
"protein_id": "ENSP00000380044.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152221.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396832.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000359867.7",
"protein_id": "ENSP00000352929.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359867.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTEP2-CSNK1E",
"gene_hgnc_id": 53829,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000400206.7",
"protein_id": "ENSP00000383067.2",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400206.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTEP2-CSNK1E",
"gene_hgnc_id": 53829,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "NM_001289912.2",
"protein_id": "NP_001276841.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289912.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "NM_001894.5",
"protein_id": "NP_001885.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001894.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000403904.5",
"protein_id": "ENSP00000384074.1",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403904.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000887326.1",
"protein_id": "ENSP00000557385.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887326.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000887327.1",
"protein_id": "ENSP00000557386.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887327.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000887328.1",
"protein_id": "ENSP00000557387.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887328.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000922680.1",
"protein_id": "ENSP00000592739.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922680.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000922681.1",
"protein_id": "ENSP00000592740.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922681.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000922683.1",
"protein_id": "ENSP00000592742.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922683.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000922685.1",
"protein_id": "ENSP00000592744.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922685.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000922686.1",
"protein_id": "ENSP00000592745.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922686.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967530.1",
"protein_id": "ENSP00000637589.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967530.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967532.1",
"protein_id": "ENSP00000637591.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967532.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967533.1",
"protein_id": "ENSP00000637592.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967533.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967534.1",
"protein_id": "ENSP00000637593.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967534.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967535.1",
"protein_id": "ENSP00000637594.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 914,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967535.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asp303Gly",
"transcript": "ENST00000922682.1",
"protein_id": "ENSP00000592741.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 414,
"cds_start": 908,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922682.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000887325.1",
"protein_id": "ENSP00000557384.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 385,
"cds_start": 914,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887325.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CSNK1E",
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"hgvs_p": "p.Asp305Gly",
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"protein_id": "ENSP00000592746.1",
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"feature": "ENST00000922687.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CSNK1E",
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"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "ENST00000967531.1",
"protein_id": "ENSP00000637590.1",
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"aa_start": 305,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000967531.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "CSNK1E",
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"hgvs_c": "c.788A>G",
"hgvs_p": "p.Asp263Gly",
"transcript": "ENST00000922684.1",
"protein_id": "ENSP00000592743.1",
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"aa_start": 263,
"aa_end": null,
"aa_length": 374,
"cds_start": 788,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922684.1"
},
{
"aa_ref": "D",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "CSNK1E",
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"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asp32Gly",
"transcript": "ENST00000431632.5",
"protein_id": "ENSP00000403610.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
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"cds_start": 95,
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"cds_length": 432,
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"biotype": "protein_coding",
"feature": "ENST00000431632.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "CSNK1E",
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"hgvs_c": "c.20A>G",
"hgvs_p": "p.Asp7Gly",
"transcript": "ENST00000366216.6",
"protein_id": "ENSP00000400494.1",
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"aa_start": 7,
"aa_end": null,
"aa_length": 118,
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"biotype": "protein_coding",
"feature": "ENST00000366216.6"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
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"exon_count": 7,
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"gene_symbol": "CSNK1E",
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"hgvs_c": "c.450A>G",
"hgvs_p": "p.Gly150Gly",
"transcript": "ENST00000431611.5",
"protein_id": "ENSP00000412194.2",
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"aa_start": 150,
"aa_end": null,
"aa_length": 256,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000431611.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CSNK1E",
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"hgvs_c": "n.29A>G",
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"transcript": "ENST00000494610.1",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000494610.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"hgvs_c": "n.-47A>G",
"hgvs_p": null,
"transcript": "ENST00000495232.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000495232.5"
}
],
"gene_symbol": "CSNK1E",
"gene_hgnc_id": 2453,
"dbsnp": "rs2092629666",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3067896366119385,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.2097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.39,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001894.5",
"gene_symbol": "CSNK1E",
"hgnc_id": 2453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001289912.2",
"gene_symbol": "TPTEP2-CSNK1E",
"hgnc_id": 53829,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}