← 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: 22-31893655-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31893655&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31893655,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001242896.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "NM_001242896.3",
"protein_id": "NP_001229825.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651528.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242896.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "ENST00000651528.2",
"protein_id": "ENSP00000498382.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242896.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651528.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "ENST00000382112.8",
"protein_id": "ENSP00000371546.4",
"transcript_support_level": 1,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382112.8"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4023G>A",
"hgvs_p": "p.Trp1341*",
"transcript": "ENST00000433147.2",
"protein_id": "ENSP00000410544.2",
"transcript_support_level": 1,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4023,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433147.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Trp1338*",
"transcript": "ENST00000400248.7",
"protein_id": "ENSP00000383107.1",
"transcript_support_level": 1,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400248.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285404",
"gene_hgnc_id": null,
"hgvs_c": "c.1787-62484G>A",
"hgvs_p": null,
"transcript": "ENST00000646701.1",
"protein_id": "ENSP00000496158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3807G>A",
"hgvs_p": null,
"transcript": "ENST00000400246.7",
"protein_id": "ENSP00000383105.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000400246.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000448753.6",
"protein_id": "ENSP00000402173.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448753.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000448753.6",
"protein_id": "ENSP00000402173.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448753.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4131G>A",
"hgvs_p": "p.Trp1377*",
"transcript": "ENST00000915004.1",
"protein_id": "ENSP00000585063.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1611,
"cds_start": 4131,
"cds_end": null,
"cds_length": 4836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915004.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "NM_001364318.2",
"protein_id": "NP_001351247.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364318.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Trp1360*",
"transcript": "NM_001136029.4",
"protein_id": "NP_001129501.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136029.4"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Trp1360*",
"transcript": "ENST00000645711.1",
"protein_id": "ENSP00000493489.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645711.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Trp1360*",
"transcript": "ENST00000915008.1",
"protein_id": "ENSP00000585067.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915008.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4065G>A",
"hgvs_p": "p.Trp1355*",
"transcript": "ENST00000645407.1",
"protein_id": "ENSP00000496252.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645407.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4041G>A",
"hgvs_p": "p.Trp1347*",
"transcript": "NM_001363852.2",
"protein_id": "NP_001350781.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4041,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363852.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4041G>A",
"hgvs_p": "p.Trp1347*",
"transcript": "NM_001364320.2",
"protein_id": "NP_001351249.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4041,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364320.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4041G>A",
"hgvs_p": "p.Trp1347*",
"transcript": "ENST00000400249.7",
"protein_id": "ENSP00000383108.3",
"transcript_support_level": 5,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4041,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400249.7"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4041G>A",
"hgvs_p": "p.Trp1347*",
"transcript": "ENST00000644331.1",
"protein_id": "ENSP00000494406.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4041,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644331.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4023G>A",
"hgvs_p": "p.Trp1341*",
"transcript": "NM_001369901.1",
"protein_id": "NP_001356830.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4023,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369901.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4023G>A",
"hgvs_p": "p.Trp1341*",
"transcript": "NM_001369902.1",
"protein_id": "NP_001356831.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4023,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369902.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Trp1338*",
"transcript": "NM_001369903.1",
"protein_id": "NP_001356832.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369903.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Trp1338*",
"transcript": "NM_014662.6",
"protein_id": "NP_055477.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014662.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Trp1338*",
"transcript": "ENST00000642696.1",
"protein_id": "ENSP00000495917.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642696.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3975G>A",
"hgvs_p": "p.Trp1325*",
"transcript": "ENST00000915011.1",
"protein_id": "ENSP00000585070.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3975,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915011.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "ENST00000382111.6",
"protein_id": "ENSP00000371545.2",
"transcript_support_level": 5,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1552,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382111.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3897G>A",
"hgvs_p": "p.Trp1299*",
"transcript": "ENST00000915006.1",
"protein_id": "ENSP00000585065.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3897,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915006.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "NM_001363854.2",
"protein_id": "NP_001350783.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363854.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "NM_001364319.2",
"protein_id": "NP_001351248.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364319.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "ENST00000645560.1",
"protein_id": "ENSP00000495544.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645560.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "ENST00000646969.1",
"protein_id": "ENSP00000496724.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646969.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3846G>A",
"hgvs_p": "p.Trp1282*",
"transcript": "ENST00000903727.1",
"protein_id": "ENSP00000573786.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3846,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903727.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3831G>A",
"hgvs_p": "p.Trp1277*",
"transcript": "ENST00000915007.1",
"protein_id": "ENSP00000585066.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3831,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915007.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3810G>A",
"hgvs_p": "p.Trp1270*",
"transcript": "ENST00000915009.1",
"protein_id": "ENSP00000585068.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3810,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915009.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3807G>A",
"hgvs_p": "p.Trp1269*",
"transcript": "NM_001242897.2",
"protein_id": "NP_001229826.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3807,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242897.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3807G>A",
"hgvs_p": "p.Trp1269*",
"transcript": "ENST00000535622.6",
"protein_id": "ENSP00000440210.1",
"transcript_support_level": 2,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3807,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535622.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3807G>A",
"hgvs_p": "p.Trp1269*",
"transcript": "ENST00000915010.1",
"protein_id": "ENSP00000585069.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3807,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915010.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "ENST00000646465.1",
"protein_id": "ENSP00000495655.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646465.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3780G>A",
"hgvs_p": "p.Trp1260*",
"transcript": "ENST00000903729.1",
"protein_id": "ENSP00000573788.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903729.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3780G>A",
"hgvs_p": "p.Trp1260*",
"transcript": "ENST00000915005.1",
"protein_id": "ENSP00000585064.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915005.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4023G>A",
"hgvs_p": "p.Trp1341*",
"transcript": "ENST00000647343.1",
"protein_id": "ENSP00000494879.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4023,
"cds_end": null,
"cds_length": 4453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647343.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3714G>A",
"hgvs_p": "p.Trp1238*",
"transcript": "ENST00000903728.1",
"protein_id": "ENSP00000573787.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3714,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903728.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Trp1232*",
"transcript": "ENST00000960437.1",
"protein_id": "ENSP00000630496.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3696,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960437.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Trp1360*",
"transcript": "XM_011530557.3",
"protein_id": "XP_011528859.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530557.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3846G>A",
"hgvs_p": "p.Trp1282*",
"transcript": "XM_011530561.3",
"protein_id": "XP_011528863.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3846,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530561.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3846G>A",
"hgvs_p": "p.Trp1282*",
"transcript": "XM_047441625.1",
"protein_id": "XP_047297581.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3846,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441625.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*",
"transcript": "XM_011530562.3",
"protein_id": "XP_011528864.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530562.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3807G>A",
"hgvs_p": "p.Trp1269*",
"transcript": "XM_011530563.3",
"protein_id": "XP_011528865.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3807,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530563.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3780G>A",
"hgvs_p": "p.Trp1260*",
"transcript": "XM_047441626.1",
"protein_id": "XP_047297582.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441626.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3780G>A",
"hgvs_p": "p.Trp1260*",
"transcript": "XM_047441627.1",
"protein_id": "XP_047297583.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441627.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Trp1338*",
"transcript": "XM_047441628.1",
"protein_id": "XP_047297584.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441628.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "XM_047441629.1",
"protein_id": "XP_047297585.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441629.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3780G>A",
"hgvs_p": "p.Trp1260*",
"transcript": "XM_047441630.1",
"protein_id": "XP_047297586.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441630.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3114G>A",
"hgvs_p": "p.Trp1038*",
"transcript": "XM_047441632.1",
"protein_id": "XP_047297588.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441632.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Trp667*",
"transcript": "XM_011530569.3",
"protein_id": "XP_011528871.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 901,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530569.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Trp658*",
"transcript": "XM_024452305.2",
"protein_id": "XP_024308073.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 892,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452305.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.*74G>A",
"hgvs_p": null,
"transcript": "XM_011530565.3",
"protein_id": "XP_011528867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": null,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530565.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.*74G>A",
"hgvs_p": null,
"transcript": "XM_047441633.1",
"protein_id": "XP_047297589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1229,
"cds_start": null,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.990G>A",
"hgvs_p": null,
"transcript": "ENST00000479261.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479261.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.829G>A",
"hgvs_p": null,
"transcript": "ENST00000642212.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*3729G>A",
"hgvs_p": null,
"transcript": "ENST00000642684.1",
"protein_id": "ENSP00000494554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2118G>A",
"hgvs_p": null,
"transcript": "ENST00000642771.1",
"protein_id": "ENSP00000496278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.817G>A",
"hgvs_p": null,
"transcript": "ENST00000642915.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.847G>A",
"hgvs_p": null,
"transcript": "ENST00000642956.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.1066G>A",
"hgvs_p": null,
"transcript": "ENST00000643021.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.1038G>A",
"hgvs_p": null,
"transcript": "ENST00000643097.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000643395.1",
"protein_id": "ENSP00000496630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*223G>A",
"hgvs_p": null,
"transcript": "ENST00000643751.2",
"protein_id": "ENSP00000495496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643751.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2735G>A",
"hgvs_p": null,
"transcript": "ENST00000644162.1",
"protein_id": "ENSP00000495371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.1046G>A",
"hgvs_p": null,
"transcript": "ENST00000644690.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000644690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2091G>A",
"hgvs_p": null,
"transcript": "ENST00000645494.1",
"protein_id": "ENSP00000495338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*223G>A",
"hgvs_p": null,
"transcript": "ENST00000645547.1",
"protein_id": "ENSP00000496023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2913G>A",
"hgvs_p": null,
"transcript": "ENST00000645755.1",
"protein_id": "ENSP00000495873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.1579G>A",
"hgvs_p": null,
"transcript": "ENST00000646135.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.949G>A",
"hgvs_p": null,
"transcript": "ENST00000646383.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*593G>A",
"hgvs_p": null,
"transcript": "ENST00000646515.1",
"protein_id": "ENSP00000494700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.972G>A",
"hgvs_p": null,
"transcript": "ENST00000646830.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000646830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000646998.1",
"protein_id": "ENSP00000494662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298701",
"gene_hgnc_id": null,
"hgvs_c": "n.431C>T",
"hgvs_p": null,
"transcript": "ENST00000757455.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000757455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298701",
"gene_hgnc_id": null,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "ENST00000757456.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000757456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3904G>A",
"hgvs_p": null,
"transcript": "NR_110988.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110988.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.4279G>A",
"hgvs_p": null,
"transcript": "NR_146296.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.4004G>A",
"hgvs_p": null,
"transcript": "NR_157125.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3876G>A",
"hgvs_p": null,
"transcript": "NR_157126.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.4138G>A",
"hgvs_p": null,
"transcript": "NR_157128.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.4313G>A",
"hgvs_p": null,
"transcript": "XR_007067997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*3729G>A",
"hgvs_p": null,
"transcript": "ENST00000642684.1",
"protein_id": "ENSP00000494554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2118G>A",
"hgvs_p": null,
"transcript": "ENST00000642771.1",
"protein_id": "ENSP00000496278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000643395.1",
"protein_id": "ENSP00000496630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*223G>A",
"hgvs_p": null,
"transcript": "ENST00000643751.2",
"protein_id": "ENSP00000495496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643751.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2735G>A",
"hgvs_p": null,
"transcript": "ENST00000644162.1",
"protein_id": "ENSP00000495371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2091G>A",
"hgvs_p": null,
"transcript": "ENST00000645494.1",
"protein_id": "ENSP00000495338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*223G>A",
"hgvs_p": null,
"transcript": "ENST00000645547.1",
"protein_id": "ENSP00000496023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*2913G>A",
"hgvs_p": null,
"transcript": "ENST00000645755.1",
"protein_id": "ENSP00000495873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*593G>A",
"hgvs_p": null,
"transcript": "ENST00000646515.1",
"protein_id": "ENSP00000494700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000646998.1",
"protein_id": "ENSP00000494662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646998.1"
}
],
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"dbsnp": "rs587776975",
"frequency_reference_population": 6.841134e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84113e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2770000100135803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.644,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001242896.3",
"gene_symbol": "DEPDC5",
"hgnc_id": 18423,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Trp1369*"
},
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646701.1",
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1787-62484G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000757455.1",
"gene_symbol": "ENSG00000298701",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.431C>T",
"hgvs_p": null
}
],
"clinvar_disease": " familial focal, with variable foci 1,Autosomal dominant epilepsy,Epilepsy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Epilepsy, familial focal, with variable foci 1|Autosomal dominant epilepsy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}