← 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: 22-31766638-TGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31766638&ref=TGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31766638,
"ref": "TGG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000651528.2",
"consequences": [
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001242896.3",
"protein_id": "NP_001229825.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1603,
"cds_start": 336,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "ENST00000651528.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000651528.2",
"protein_id": "ENSP00000498382.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1603,
"cds_start": 336,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "NM_001242896.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000382112.8",
"protein_id": "ENSP00000371546.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1603,
"cds_start": 336,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000400248.7",
"protein_id": "ENSP00000383107.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1572,
"cds_start": 336,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000400242.8",
"protein_id": "ENSP00000383101.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 559,
"cds_start": 336,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null,
"transcript": "ENST00000433147.2",
"protein_id": "ENSP00000410544.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": -4,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285404",
"gene_hgnc_id": null,
"hgvs_c": "c.279+1581_279+1582delGG",
"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": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001364318.2",
"protein_id": "NP_001351247.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1603,
"cds_start": 336,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001136029.4",
"protein_id": "NP_001129501.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1594,
"cds_start": 336,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645711.1",
"protein_id": "ENSP00000493489.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1594,
"cds_start": 336,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645407.1",
"protein_id": "ENSP00000496252.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1589,
"cds_start": 336,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001363852.2",
"protein_id": "NP_001350781.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1581,
"cds_start": 336,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001364320.2",
"protein_id": "NP_001351249.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1581,
"cds_start": 336,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000400249.7",
"protein_id": "ENSP00000383108.3",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 1581,
"cds_start": 336,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000644331.1",
"protein_id": "ENSP00000494406.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1581,
"cds_start": 336,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001369903.1",
"protein_id": "NP_001356832.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1572,
"cds_start": 336,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_014662.6",
"protein_id": "NP_055477.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1572,
"cds_start": 336,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000642696.1",
"protein_id": "ENSP00000495917.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1572,
"cds_start": 336,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000382111.6",
"protein_id": "ENSP00000371545.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 1552,
"cds_start": 336,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001363854.2",
"protein_id": "NP_001350783.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1525,
"cds_start": 336,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001364319.2",
"protein_id": "NP_001351248.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1525,
"cds_start": 336,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645560.1",
"protein_id": "ENSP00000495544.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1525,
"cds_start": 336,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000646969.1",
"protein_id": "ENSP00000496724.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1525,
"cds_start": 336,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001242897.2",
"protein_id": "NP_001229826.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1503,
"cds_start": 336,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000535622.6",
"protein_id": "ENSP00000440210.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 1503,
"cds_start": 336,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000646465.1",
"protein_id": "ENSP00000495655.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1496,
"cds_start": 336,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000642974.1",
"protein_id": "ENSP00000496395.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 829,
"cds_start": 336,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645564.1",
"protein_id": "ENSP00000494484.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 794,
"cds_start": 336,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645693.1",
"protein_id": "ENSP00000496281.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 747,
"cds_start": 336,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "NM_001007188.4",
"protein_id": "NP_001007189.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 559,
"cds_start": 336,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000646755.1",
"protein_id": "ENSP00000496532.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 559,
"cds_start": 336,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000437411.6",
"protein_id": "ENSP00000416314.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 193,
"cds_start": 336,
"cds_end": null,
"cds_length": 582,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "ENST00000645015.1",
"protein_id": "ENSP00000494299.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 193,
"cds_start": 336,
"cds_end": null,
"cds_length": 582,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_011530557.3",
"protein_id": "XP_011528859.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1594,
"cds_start": 336,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_011530561.3",
"protein_id": "XP_011528863.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1516,
"cds_start": 336,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441625.1",
"protein_id": "XP_047297581.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1516,
"cds_start": 336,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_011530562.3",
"protein_id": "XP_011528864.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1515,
"cds_start": 336,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_011530563.3",
"protein_id": "XP_011528865.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1503,
"cds_start": 336,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441626.1",
"protein_id": "XP_047297582.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1494,
"cds_start": 336,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441627.1",
"protein_id": "XP_047297583.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1494,
"cds_start": 336,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441628.1",
"protein_id": "XP_047297584.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1484,
"cds_start": 336,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441629.1",
"protein_id": "XP_047297585.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1437,
"cds_start": 336,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441630.1",
"protein_id": "XP_047297586.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1406,
"cds_start": 336,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441631.1",
"protein_id": "XP_047297587.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1317,
"cds_start": 336,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_011530565.3",
"protein_id": "XP_011528867.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1307,
"cds_start": 336,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441633.1",
"protein_id": "XP_047297589.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1229,
"cds_start": 336,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441634.1",
"protein_id": "XP_047297590.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1198,
"cds_start": 336,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441635.1",
"protein_id": "XP_047297591.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1187,
"cds_start": 336,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441636.1",
"protein_id": "XP_047297592.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1156,
"cds_start": 336,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_017029113.2",
"protein_id": "XP_016884602.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 727,
"cds_start": 336,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_017029114.2",
"protein_id": "XP_016884603.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 716,
"cds_start": 336,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs",
"transcript": "XM_047441637.1",
"protein_id": "XP_047297593.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 649,
"cds_start": 336,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3_4delGG",
"hgvs_p": null,
"transcript": "ENST00000469974.6",
"protein_id": "ENSP00000494860.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.72_73delGG",
"hgvs_p": null,
"transcript": "ENST00000642551.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*29_*30delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.438_439delGG",
"hgvs_p": null,
"transcript": "ENST00000643948.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.202_203delGG",
"hgvs_p": null,
"transcript": "ENST00000645785.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"hgvs_p": null,
"transcript": "ENST00000645967.1",
"protein_id": "ENSP00000495187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.336_337delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.542_543delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.425_426delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.425_426delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.425_426delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.542_543delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.542_543delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.-4_-3delGG",
"hgvs_p": null,
"transcript": "ENST00000456178.6",
"protein_id": "ENSP00000405351.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
"cds_length": 113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*29_*30delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null,
"transcript": "NM_001369901.1",
"protein_id": "NP_001356830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": -4,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null,
"transcript": "NM_001369902.1",
"protein_id": "NP_001356831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": -4,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null,
"transcript": "ENST00000647343.1",
"protein_id": "ENSP00000494879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": -4,
"cds_end": null,
"cds_length": 4453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null,
"transcript": "ENST00000647438.1",
"protein_id": "ENSP00000494714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.189+1581_189+1582delGG",
"hgvs_p": null,
"transcript": "ENST00000458532.2",
"protein_id": "ENSP00000412057.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.450+1581_450+1582delGG",
"hgvs_p": null,
"transcript": "ENST00000643166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.279+1581_279+1582delGG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"dbsnp": "rs1085307452",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.472,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651528.2",
"gene_symbol": "DEPDC5",
"hgnc_id": 18423,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.336_337delGG",
"hgvs_p": "p.Asp113fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646701.1",
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.279+1581_279+1582delGG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}