← 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: 2-201285116-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201285116&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201285116,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000673742.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001372051.1",
"protein_id": "NP_001358980.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": "ENST00000673742.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "ENST00000673742.1",
"protein_id": "ENSP00000501268.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": "NM_001372051.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Asp",
"transcript": "ENST00000358485.8",
"protein_id": "ENSP00000351273.4",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 538,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Gly385Asp",
"transcript": "ENST00000264275.9",
"protein_id": "ENSP00000264275.5",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 496,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "ENST00000323492.11",
"protein_id": "ENSP00000325722.7",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2650,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*408G>A",
"hgvs_p": null,
"transcript": "ENST00000339403.6",
"protein_id": "ENSP00000512271.1",
"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": 1723,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*408G>A",
"hgvs_p": null,
"transcript": "ENST00000339403.6",
"protein_id": "ENSP00000512271.1",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Asp",
"transcript": "NM_001080125.2",
"protein_id": "NP_001073594.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 538,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Gly412Asp",
"transcript": "NM_001400642.1",
"protein_id": "NP_001387571.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 523,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Gly412Asp",
"transcript": "ENST00000696085.1",
"protein_id": "ENSP00000512381.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 523,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Gly385Asp",
"transcript": "NM_001228.5",
"protein_id": "NP_001219.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 496,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Gly379Asp",
"transcript": "NM_001400645.1",
"protein_id": "NP_001387574.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 490,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400648.1",
"protein_id": "NP_001387577.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400651.1",
"protein_id": "NP_001387580.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400653.1",
"protein_id": "NP_001387582.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400654.1",
"protein_id": "NP_001387583.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400655.1",
"protein_id": "NP_001387584.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400656.1",
"protein_id": "NP_001387585.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_001400657.1",
"protein_id": "NP_001387586.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "NM_033355.4",
"protein_id": "NP_203519.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "ENST00000413726.6",
"protein_id": "ENSP00000397528.2",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "ENST00000432109.6",
"protein_id": "ENSP00000412523.2",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "ENST00000440732.6",
"protein_id": "ENSP00000396869.2",
"transcript_support_level": 4,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp",
"transcript": "ENST00000696067.1",
"protein_id": "ENSP00000512369.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001080124.2",
"protein_id": "NP_001073593.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400658.1",
"protein_id": "NP_001387587.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400659.1",
"protein_id": "NP_001387588.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400660.1",
"protein_id": "NP_001387589.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400661.1",
"protein_id": "NP_001387590.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400662.1",
"protein_id": "NP_001387591.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_001400663.1",
"protein_id": "NP_001387592.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "NM_033356.4",
"protein_id": "NP_203520.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "ENST00000392263.6",
"protein_id": "ENSP00000376091.2",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "ENST00000696087.1",
"protein_id": "ENSP00000512382.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Gly345Asp",
"transcript": "NM_001400664.1",
"protein_id": "NP_001387593.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 456,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1028G>A",
"hgvs_p": "p.Gly343Asp",
"transcript": "NM_001400665.1",
"protein_id": "NP_001387594.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 454,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "ENST00000696069.1",
"protein_id": "ENSP00000512371.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 435,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Gly299Asp",
"transcript": "NM_001400666.1",
"protein_id": "NP_001387595.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 410,
"cds_start": 896,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Asp",
"transcript": "NM_001400667.1",
"protein_id": "NP_001387596.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 395,
"cds_start": 851,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Asp",
"transcript": "NM_001400668.1",
"protein_id": "NP_001387597.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 395,
"cds_start": 851,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Asp",
"transcript": "ENST00000444430.3",
"protein_id": "ENSP00000394434.3",
"transcript_support_level": 5,
"aa_start": 284,
"aa_end": null,
"aa_length": 395,
"cds_start": 851,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Gly265Asp",
"transcript": "NM_001400669.1",
"protein_id": "NP_001387598.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 376,
"cds_start": 794,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Asp",
"transcript": "ENST00000450491.6",
"protein_id": "ENSP00000391709.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 361,
"cds_start": 749,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Gly169Asp",
"transcript": "NM_001400671.1",
"protein_id": "NP_001387600.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 280,
"cds_start": 506,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Gly169Asp",
"transcript": "NM_001400672.1",
"protein_id": "NP_001387601.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 280,
"cds_start": 506,
"cds_end": null,
"cds_length": 843,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Gly169Asp",
"transcript": "NM_001400673.1",
"protein_id": "NP_001387602.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 280,
"cds_start": 506,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Gly169Asp",
"transcript": "NM_001400750.1",
"protein_id": "NP_001387679.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 280,
"cds_start": 506,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Gly163Asp",
"transcript": "NM_001400674.1",
"protein_id": "NP_001387603.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 274,
"cds_start": 488,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Gly163Asp",
"transcript": "NM_001400680.1",
"protein_id": "NP_001387609.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 274,
"cds_start": 488,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "NM_001400675.1",
"protein_id": "NP_001387604.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 265,
"cds_start": 461,
"cds_end": null,
"cds_length": 798,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "NM_001400676.1",
"protein_id": "NP_001387605.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 265,
"cds_start": 461,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "NM_001400677.1",
"protein_id": "NP_001387606.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 265,
"cds_start": 461,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "NM_001400678.1",
"protein_id": "NP_001387607.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 265,
"cds_start": 461,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "NM_001400751.1",
"protein_id": "NP_001387680.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 265,
"cds_start": 461,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Gly404Asp",
"transcript": "XM_047445961.1",
"protein_id": "XP_047301917.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 515,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Gly353Asp",
"transcript": "XM_047445959.1",
"protein_id": "XP_047301915.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Gly265Asp",
"transcript": "XM_047445960.1",
"protein_id": "XP_047301916.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 376,
"cds_start": 794,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "XM_011511969.3",
"protein_id": "XP_011510271.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 334,
"cds_start": 668,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2236,
"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": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*330G>A",
"hgvs_p": null,
"transcript": "ENST00000696068.1",
"protein_id": "ENSP00000512370.1",
"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": 2490,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.377G>A",
"hgvs_p": null,
"transcript": "ENST00000696086.1",
"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": 1751,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1613G>A",
"hgvs_p": null,
"transcript": "NR_111983.2",
"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": 3065,
"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": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1192G>A",
"hgvs_p": null,
"transcript": "NR_174564.1",
"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": 2644,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1322G>A",
"hgvs_p": null,
"transcript": "NR_174565.1",
"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": 2774,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1348G>A",
"hgvs_p": null,
"transcript": "NR_174581.1",
"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": 2800,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1454G>A",
"hgvs_p": null,
"transcript": "NR_174583.1",
"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": 2906,
"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": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1367G>A",
"hgvs_p": null,
"transcript": "NR_174584.1",
"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": 2819,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1385G>A",
"hgvs_p": null,
"transcript": "NR_174585.1",
"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": 2837,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1359G>A",
"hgvs_p": null,
"transcript": "NR_174586.1",
"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": 2811,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1522G>A",
"hgvs_p": null,
"transcript": "NR_174588.1",
"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": 2974,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1317G>A",
"hgvs_p": null,
"transcript": "NR_174589.1",
"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": 2769,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1409G>A",
"hgvs_p": null,
"transcript": "NR_174590.1",
"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": 2861,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1340G>A",
"hgvs_p": null,
"transcript": "NR_174591.1",
"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": 2792,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1685G>A",
"hgvs_p": null,
"transcript": "NR_174592.1",
"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": 3137,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1483G>A",
"hgvs_p": null,
"transcript": "NR_174593.1",
"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": 2935,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1526G>A",
"hgvs_p": null,
"transcript": "NR_174594.1",
"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": 2978,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1441G>A",
"hgvs_p": null,
"transcript": "NR_174595.1",
"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": 2893,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1278G>A",
"hgvs_p": null,
"transcript": "NR_174596.1",
"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": 2730,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1636G>A",
"hgvs_p": null,
"transcript": "NR_174598.1",
"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": 3088,
"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": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1020G>A",
"hgvs_p": null,
"transcript": "NR_174599.1",
"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": 2472,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1548G>A",
"hgvs_p": null,
"transcript": "NR_174600.1",
"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": 3000,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1473G>A",
"hgvs_p": null,
"transcript": "NR_174601.1",
"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": 2925,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.1343G>A",
"hgvs_p": null,
"transcript": "NR_174602.1",
"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": 2795,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*330G>A",
"hgvs_p": null,
"transcript": "ENST00000696068.1",
"protein_id": "ENSP00000512370.1",
"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": 2490,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.803-147G>A",
"hgvs_p": null,
"transcript": "NM_001400670.1",
"protein_id": "NP_001387599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.*330G>A",
"hgvs_p": null,
"transcript": "XM_005246893.4",
"protein_id": "XP_005246950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*213G>A",
"hgvs_p": null,
"transcript": "XR_007082538.1",
"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": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*213G>A",
"hgvs_p": null,
"transcript": "XR_007082539.1",
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"dbsnp": "rs758525204",
"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": 0.6452065110206604,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.9075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.191,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673742.1",
"gene_symbol": "CASP8",
"hgnc_id": 1509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}