← 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: 22-31906252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31906252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PS3",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "DEPDC5",
"hgnc_id": 18423,
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Gln1523*",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001242896.3",
"verdict": "Pathogenic"
},
{
"benign_score": 1,
"criteria": [
"PS3",
"PM2",
"PP5",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"hgvs_c": "c.1787-49887C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 6,
"transcript": "ENST00000646701.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PS3,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1767,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " familial focal, with variable foci 1,Epilepsy,Familial focal epilepsy with variable foci,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3646213710308075,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 4773,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4567,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001242896.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Gln1523*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651528.2",
"protein_coding": true,
"protein_id": "NP_001229825.1",
"strand": true,
"transcript": "NM_001242896.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 4773,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4567,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000651528.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Gln1523*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242896.3",
"protein_coding": true,
"protein_id": "ENSP00000498382.1",
"strand": true,
"transcript": "ENST00000651528.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 4653,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4567,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000382112.8",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Gln1523*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371546.4",
"strand": true,
"transcript": "ENST00000382112.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5331,
"cdna_start": 4585,
"cds_end": null,
"cds_length": 4728,
"cds_start": 4483,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000433147.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4483C>T",
"hgvs_p": "p.Gln1495*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410544.2",
"strand": true,
"transcript": "ENST00000433147.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "Q",
"aa_start": 1492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 4557,
"cds_end": null,
"cds_length": 4719,
"cds_start": 4474,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000400248.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4474C>T",
"hgvs_p": "p.Gln1492*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383107.1",
"strand": true,
"transcript": "ENST00000400248.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646701.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285404",
"hgvs_c": "c.1787-49887C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496158.1",
"strand": true,
"transcript": "ENST00000646701.1",
"transcript_support_level": null
},
{
"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": 5725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000400246.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*831C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000383105.3",
"strand": true,
"transcript": "ENST00000400246.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000448753.6",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402173.1",
"strand": true,
"transcript": "ENST00000448753.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000400246.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*831C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000383105.3",
"strand": true,
"transcript": "ENST00000400246.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000448753.6",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402173.1",
"strand": true,
"transcript": "ENST00000448753.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1611,
"aa_ref": "Q",
"aa_start": 1531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 4770,
"cds_end": null,
"cds_length": 4836,
"cds_start": 4591,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000915004.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4591C>T",
"hgvs_p": "p.Gln1531*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585063.1",
"strand": true,
"transcript": "ENST00000915004.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 4656,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4567,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001364318.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Gln1523*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351247.1",
"strand": true,
"transcript": "NM_001364318.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 4629,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4540,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001136029.4",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Gln1514*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129501.1",
"strand": true,
"transcript": "NM_001136029.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5450,
"cdna_start": 4697,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4540,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000645711.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Gln1514*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493489.1",
"strand": true,
"transcript": "ENST00000645711.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 4775,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4540,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000915008.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Gln1514*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585067.1",
"strand": true,
"transcript": "ENST00000915008.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "Q",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": 4532,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4525,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000645407.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Gln1509*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496252.1",
"strand": true,
"transcript": "ENST00000645407.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 1501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5353,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4501,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001363852.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4501C>T",
"hgvs_p": "p.Gln1501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350781.1",
"strand": true,
"transcript": "NM_001363852.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 1501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6488,
"cdna_start": 4707,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4501,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001364320.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4501C>T",
"hgvs_p": "p.Gln1501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351249.1",
"strand": true,
"transcript": "NM_001364320.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 1501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 4593,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4501,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000400249.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4501C>T",
"hgvs_p": "p.Gln1501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383108.3",
"strand": true,
"transcript": "ENST00000400249.7",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 1501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 4646,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4501,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000644331.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4501C>T",
"hgvs_p": "p.Gln1501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494406.1",
"strand": true,
"transcript": "ENST00000644331.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 4685,
"cds_end": null,
"cds_length": 4728,
"cds_start": 4483,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001369901.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4483C>T",
"hgvs_p": "p.Gln1495*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356830.1",
"strand": true,
"transcript": "NM_001369901.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": 4572,
"cds_end": null,
"cds_length": 4728,
"cds_start": 4483,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001369902.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4483C>T",
"hgvs_p": "p.Gln1495*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356831.1",
"strand": true,
"transcript": "NM_001369902.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "Q",
"aa_start": 1492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5439,
"cdna_start": 4676,
"cds_end": null,
"cds_length": 4719,
"cds_start": 4474,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001369903.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4474C>T",
"hgvs_p": "p.Gln1492*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356832.1",
"strand": true,
"transcript": "NM_001369903.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "Q",
"aa_start": 1492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 4563,
"cds_end": null,
"cds_length": 4719,
"cds_start": 4474,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_014662.6",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4474C>T",
"hgvs_p": "p.Gln1492*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055477.1",
"strand": true,
"transcript": "NM_014662.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "Q",
"aa_start": 1492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6479,
"cdna_start": 4698,
"cds_end": null,
"cds_length": 4719,
"cds_start": 4474,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000642696.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4474C>T",
"hgvs_p": "p.Gln1492*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495917.1",
"strand": true,
"transcript": "ENST00000642696.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "Q",
"aa_start": 1479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5346,
"cdna_start": 4584,
"cds_end": null,
"cds_length": 4680,
"cds_start": 4435,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000915011.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4435C>T",
"hgvs_p": "p.Gln1479*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585070.1",
"strand": true,
"transcript": "ENST00000915011.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "Q",
"aa_start": 1453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": 4446,
"cds_end": null,
"cds_length": 4602,
"cds_start": 4357,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000915006.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4357C>T",
"hgvs_p": "p.Gln1453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585065.1",
"strand": true,
"transcript": "ENST00000915006.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "Q",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 4422,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4333,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001363854.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4333C>T",
"hgvs_p": "p.Gln1445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350783.1",
"strand": true,
"transcript": "NM_001363854.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "Q",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6320,
"cdna_start": 4539,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4333,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001364319.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4333C>T",
"hgvs_p": "p.Gln1445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351248.1",
"strand": true,
"transcript": "NM_001364319.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "Q",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 4458,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4333,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000645560.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4333C>T",
"hgvs_p": "p.Gln1445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495544.1",
"strand": true,
"transcript": "ENST00000645560.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "Q",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5286,
"cdna_start": 4563,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4333,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646969.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4333C>T",
"hgvs_p": "p.Gln1445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496724.1",
"strand": true,
"transcript": "ENST00000646969.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "Q",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5204,
"cdna_start": 4444,
"cds_end": null,
"cds_length": 4551,
"cds_start": 4306,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000903727.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4306C>T",
"hgvs_p": "p.Gln1436*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573786.1",
"strand": true,
"transcript": "ENST00000903727.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "Q",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 4371,
"cds_end": null,
"cds_length": 4536,
"cds_start": 4291,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000915007.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4291C>T",
"hgvs_p": "p.Gln1431*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585066.1",
"strand": true,
"transcript": "ENST00000915007.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "Q",
"aa_start": 1424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5217,
"cdna_start": 4442,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4270,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000915009.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4270C>T",
"hgvs_p": "p.Gln1424*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585068.1",
"strand": true,
"transcript": "ENST00000915009.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 1423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5119,
"cdna_start": 4356,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4267,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001242897.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4267C>T",
"hgvs_p": "p.Gln1423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229826.1",
"strand": true,
"transcript": "NM_001242897.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 1423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5197,
"cdna_start": 4457,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4267,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000535622.6",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4267C>T",
"hgvs_p": "p.Gln1423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440210.1",
"strand": true,
"transcript": "ENST00000535622.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 1423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5206,
"cdna_start": 4443,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4267,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000915010.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4267C>T",
"hgvs_p": "p.Gln1423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585069.1",
"strand": true,
"transcript": "ENST00000915010.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "Q",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 4455,
"cds_end": null,
"cds_length": 4485,
"cds_start": 4240,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903729.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Gln1414*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573788.1",
"strand": true,
"transcript": "ENST00000903729.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "Q",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5092,
"cdna_start": 4332,
"cds_end": null,
"cds_length": 4485,
"cds_start": 4240,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000915005.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Gln1414*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585064.1",
"strand": true,
"transcript": "ENST00000915005.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "Q",
"aa_start": 1392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 4254,
"cds_end": null,
"cds_length": 4419,
"cds_start": 4174,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903728.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4174C>T",
"hgvs_p": "p.Gln1392*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573787.1",
"strand": true,
"transcript": "ENST00000903728.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "Q",
"aa_start": 1386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4995,
"cdna_start": 4235,
"cds_end": null,
"cds_length": 4401,
"cds_start": 4156,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000960437.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4156C>T",
"hgvs_p": "p.Gln1386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630496.1",
"strand": true,
"transcript": "ENST00000960437.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6527,
"cdna_start": 4746,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4540,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011530557.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Gln1514*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528859.1",
"strand": true,
"transcript": "XM_011530557.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "Q",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6293,
"cdna_start": 4512,
"cds_end": null,
"cds_length": 4551,
"cds_start": 4306,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_011530561.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4306C>T",
"hgvs_p": "p.Gln1436*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528863.1",
"strand": true,
"transcript": "XM_011530561.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "Q",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 4395,
"cds_end": null,
"cds_length": 4551,
"cds_start": 4306,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_047441625.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4306C>T",
"hgvs_p": "p.Gln1436*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297581.1",
"strand": true,
"transcript": "XM_047441625.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 1423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": 4473,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4267,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_011530563.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4267C>T",
"hgvs_p": "p.Gln1423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528865.1",
"strand": true,
"transcript": "XM_011530563.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "Q",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 4446,
"cds_end": null,
"cds_length": 4485,
"cds_start": 4240,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_047441626.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Gln1414*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297582.1",
"strand": true,
"transcript": "XM_047441626.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "Q",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6110,
"cdna_start": 4329,
"cds_end": null,
"cds_length": 4485,
"cds_start": 4240,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_047441627.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Gln1414*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297583.1",
"strand": true,
"transcript": "XM_047441627.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "Q",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 4169,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3574,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047441632.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.3574C>T",
"hgvs_p": "p.Gln1192*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297588.1",
"strand": true,
"transcript": "XM_047441632.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 901,
"aa_ref": "Q",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2461,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530569.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Gln821*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528871.1",
"strand": true,
"transcript": "XM_011530569.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 892,
"aa_ref": "Q",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2434,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024452305.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.2434C>T",
"hgvs_p": "p.Gln812*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308073.1",
"strand": true,
"transcript": "XM_024452305.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "A",
"aa_start": 1454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 4518,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4361,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646465.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4361C>T",
"hgvs_p": "p.Ala1454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495655.1",
"strand": true,
"transcript": "ENST00000646465.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1552,
"aa_ref": "G",
"aa_start": 1502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 4566,
"cds_end": null,
"cds_length": 4659,
"cds_start": 4506,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000382111.6",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4506C>T",
"hgvs_p": "p.Gly1502Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371545.2",
"strand": true,
"transcript": "ENST00000382111.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "G",
"aa_start": 1465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6382,
"cdna_start": 4601,
"cds_end": null,
"cds_length": 4548,
"cds_start": 4395,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_011530562.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4395C>T",
"hgvs_p": "p.Gly1465Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528864.1",
"strand": true,
"transcript": "XM_011530562.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "G",
"aa_start": 1434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6289,
"cdna_start": 4508,
"cds_end": null,
"cds_length": 4455,
"cds_start": 4302,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_047441628.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4302C>T",
"hgvs_p": "p.Gly1434Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297584.1",
"strand": true,
"transcript": "XM_047441628.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 1387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6148,
"cdna_start": 4367,
"cds_end": null,
"cds_length": 4314,
"cds_start": 4161,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_047441629.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4161C>T",
"hgvs_p": "p.Gly1387Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297585.1",
"strand": true,
"transcript": "XM_047441629.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "G",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6055,
"cdna_start": 4274,
"cds_end": null,
"cds_length": 4221,
"cds_start": 4068,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_047441630.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.4068C>T",
"hgvs_p": "p.Gly1356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297586.1",
"strand": true,
"transcript": "XM_047441630.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 30,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 288,
"cdna_start": null,
"cds_end": null,
"cds_length": 93,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497340.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.81-553C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496596.1",
"strand": true,
"transcript": "ENST00000497340.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000479261.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1450C>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": "ENST00000479261.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642212.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1289C>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": "ENST00000642212.1",
"transcript_support_level": null
},
{
"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": 5410,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000642684.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*4189C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494554.1",
"strand": true,
"transcript": "ENST00000642684.1",
"transcript_support_level": null
},
{
"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": 5301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000642771.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*2578C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496278.1",
"strand": true,
"transcript": "ENST00000642771.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000642956.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1307C>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": "ENST00000642956.1",
"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": 2249,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000643021.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1526C>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": "ENST00000643021.1",
"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": 2211,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643097.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1498C>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": "ENST00000643097.1",
"transcript_support_level": null
},
{
"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": 4790,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000643395.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496630.1",
"strand": true,
"transcript": "ENST00000643395.1",
"transcript_support_level": null
},
{
"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": 5067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000643751.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*683C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495496.1",
"strand": true,
"transcript": "ENST00000643751.2",
"transcript_support_level": null
},
{
"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": 5224,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000644162.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*3195C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495371.1",
"strand": true,
"transcript": "ENST00000644162.1",
"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": 2052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644690.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1506C>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": "ENST00000644690.1",
"transcript_support_level": null
},
{
"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": 5371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000645494.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*2551C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495338.1",
"strand": true,
"transcript": "ENST00000645494.1",
"transcript_support_level": null
},
{
"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": 2084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000645547.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*683C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496023.1",
"strand": true,
"transcript": "ENST00000645547.1",
"transcript_support_level": null
},
{
"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": 5214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000645755.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*3373C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495873.1",
"strand": true,
"transcript": "ENST00000645755.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000646135.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.2039C>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": "ENST00000646135.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646383.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1437C>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": "ENST00000646383.1",
"transcript_support_level": null
},
{
"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": 5472,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000646515.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*1053C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494700.1",
"strand": true,
"transcript": "ENST00000646515.1",
"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": 1518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000646830.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.1432C>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": "ENST00000646830.1",
"transcript_support_level": null
},
{
"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": 5302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646998.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494662.1",
"strand": true,
"transcript": "ENST00000646998.1",
"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": 5127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NR_110988.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.4364C>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": "NR_110988.2",
"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": 5502,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NR_146296.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.4739C>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": "NR_146296.2",
"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": 6245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NR_157125.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.4464C>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": "NR_157125.2",
"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": 6117,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NR_157126.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.4336C>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": "NR_157126.2",
"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": 5361,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NR_157128.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.4598C>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": "NR_157128.1",
"transcript_support_level": null
},
{
"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": 5410,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000642684.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*4189C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494554.1",
"strand": true,
"transcript": "ENST00000642684.1",
"transcript_support_level": null
},
{
"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": 5301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000642771.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*2578C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496278.1",
"strand": true,
"transcript": "ENST00000642771.1",
"transcript_support_level": null
},
{
"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": 4790,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000643395.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496630.1",
"strand": true,
"transcript": "ENST00000643395.1",
"transcript_support_level": null
},
{
"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": 5067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000643751.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*683C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495496.1",
"strand": true,
"transcript": "ENST00000643751.2",
"transcript_support_level": null
},
{
"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": 5224,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000644162.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*3195C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495371.1",
"strand": true,
"transcript": "ENST00000644162.1",
"transcript_support_level": null
},
{
"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": 5371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000645494.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*2551C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495338.1",
"strand": true,
"transcript": "ENST00000645494.1",
"transcript_support_level": null
},
{
"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": 2084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000645547.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*683C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496023.1",
"strand": true,
"transcript": "ENST00000645547.1",
"transcript_support_level": null
},
{
"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": 5214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000645755.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*3373C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495873.1",
"strand": true,
"transcript": "ENST00000645755.1",
"transcript_support_level": null
},
{
"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": 5472,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000646515.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*1053C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494700.1",
"strand": true,
"transcript": "ENST00000646515.1",
"transcript_support_level": null
},
{
"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": 5302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646998.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494662.1",
"strand": true,
"transcript": "ENST00000646998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4664,
"cdna_start": null,
"cds_end": null,
"cds_length": 4453,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647343.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494879.1",
"strand": true,
"transcript": "ENST00000647343.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs797044546",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Epilepsy, familial focal, with variable foci 1|Inborn genetic diseases|Familial focal epilepsy with variable foci",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.739,
"pos": 31906252,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.207,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001242896.3"
}
]
}