← Back to variant description
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: 8-1780431-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1780431&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLN8",
"hgnc_id": 2079,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_018941.4",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"hgvs_c": "n.543+8834C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000635855.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 205,
"alphamissense_prediction": null,
"alphamissense_score": 0.5989,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "CLN8-related disorder,Neuronal ceroid lipofuscinosis,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05007535219192505,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 945,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_018941.4",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331222.6",
"protein_coding": true,
"protein_id": "NP_061764.2",
"strand": true,
"transcript": "NM_018941.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 945,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000331222.6",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018941.4",
"protein_coding": true,
"protein_id": "ENSP00000328182.4",
"strand": true,
"transcript": "ENST00000331222.6",
"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": 6169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635855.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.543+8834C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489726.1",
"strand": true,
"transcript": "ENST00000635855.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 900,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519254.2",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490016.1",
"strand": true,
"transcript": "ENST00000519254.2",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635751.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489694.1",
"strand": true,
"transcript": "ENST00000635751.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000637083.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490235.1",
"strand": true,
"transcript": "ENST00000637083.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 974,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637156.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490458.1",
"strand": true,
"transcript": "ENST00000637156.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000859935.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529994.1",
"strand": true,
"transcript": "ENST00000859935.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859937.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529996.1",
"strand": true,
"transcript": "ENST00000859937.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 893,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859938.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529997.1",
"strand": true,
"transcript": "ENST00000859938.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 970,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859939.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529998.1",
"strand": true,
"transcript": "ENST00000859939.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859940.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529999.1",
"strand": true,
"transcript": "ENST00000859940.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 936,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859941.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530000.1",
"strand": true,
"transcript": "ENST00000859941.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933685.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603744.1",
"strand": true,
"transcript": "ENST00000933685.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933688.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603747.1",
"strand": true,
"transcript": "ENST00000933688.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 926,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933689.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603748.1",
"strand": true,
"transcript": "ENST00000933689.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": 951,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933692.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603751.1",
"strand": true,
"transcript": "ENST00000933692.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 942,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000965220.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635279.1",
"strand": true,
"transcript": "ENST00000965220.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 952,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000965221.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635280.1",
"strand": true,
"transcript": "ENST00000965221.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 981,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000965222.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635281.1",
"strand": true,
"transcript": "ENST00000965222.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7124,
"cdna_start": 985,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005266021.5",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266078.1",
"strand": true,
"transcript": "XM_005266021.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7314,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005266022.2",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266079.1",
"strand": true,
"transcript": "XM_005266022.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 967,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005266023.2",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266080.1",
"strand": true,
"transcript": "XM_005266023.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7140,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011534745.2",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533047.1",
"strand": true,
"transcript": "XM_011534745.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7197,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011534746.3",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533048.1",
"strand": true,
"transcript": "XM_011534746.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7126,
"cdna_start": 987,
"cds_end": null,
"cds_length": 861,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047421512.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277468.1",
"strand": true,
"transcript": "XM_047421512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": null,
"cds_end": null,
"cds_length": 651,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000520991.3",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.*136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487905.2",
"strand": true,
"transcript": "ENST00000520991.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": null,
"cds_end": null,
"cds_length": 651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636934.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.543+8834C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490218.1",
"strand": true,
"transcript": "ENST00000636934.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859936.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-32C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529995.1",
"strand": true,
"transcript": "ENST00000859936.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933687.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-32C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603746.1",
"strand": true,
"transcript": "ENST00000933687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933690.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-32C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603749.1",
"strand": true,
"transcript": "ENST00000933690.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965219.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-32C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635278.1",
"strand": true,
"transcript": "ENST00000965219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": null,
"cds_end": null,
"cds_length": 645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933686.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-35C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603745.1",
"strand": true,
"transcript": "ENST00000933686.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": null,
"cds_end": null,
"cds_length": 645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933691.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.544-35C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603750.1",
"strand": true,
"transcript": "ENST00000933691.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523237.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "n.500C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000523237.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635970.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490439.1",
"strand": true,
"transcript": "ENST00000635970.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635773.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.495+8834C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490620.1",
"strand": true,
"transcript": "ENST00000635773.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636175.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.342+8834C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490769.1",
"strand": true,
"transcript": "ENST00000636175.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138821993",
"effect": "missense_variant",
"frequency_reference_population": 0.00012699663,
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"gnomad_exomes_ac": 188,
"gnomad_exomes_af": 0.0001286,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 17,
"gnomad_genomes_af": 0.000111604,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Neuronal ceroid lipofuscinosis|CLN8-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.366,
"pos": 1780431,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.63,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_018941.4"
}
]
}