← 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: 10-95337020-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95337020&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95337020,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371247.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Arg1047Pro",
"transcript": "NM_001034954.3",
"protein_id": "NP_001030126.2",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "ENST00000371247.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Arg1047Pro",
"transcript": "ENST00000371247.7",
"protein_id": "ENSP00000360293.2",
"transcript_support_level": 5,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "NM_001034954.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Arg1047Pro",
"transcript": "ENST00000361941.7",
"protein_id": "ENSP00000355136.3",
"transcript_support_level": 1,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3002G>C",
"hgvs_p": "p.Arg1001Pro",
"transcript": "ENST00000371227.8",
"protein_id": "ENSP00000360271.3",
"transcript_support_level": 1,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2932-215G>C",
"hgvs_p": null,
"transcript": "ENST00000277982.9",
"protein_id": "ENSP00000277982.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2418+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000371245.7",
"protein_id": "ENSP00000360291.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2211+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000371249.6",
"protein_id": "ENSP00000360295.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2106+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000306402.10",
"protein_id": "ENSP00000302556.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.4016G>C",
"hgvs_p": "p.Arg1339Pro",
"transcript": "NM_001384452.1",
"protein_id": "NP_001371381.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1628,
"cds_start": 4016,
"cds_end": null,
"cds_length": 4887,
"cdna_start": 4199,
"cdna_end": null,
"cdna_length": 8356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3989G>C",
"hgvs_p": "p.Arg1330Pro",
"transcript": "NM_001384448.1",
"protein_id": "NP_001371377.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1619,
"cds_start": 3989,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 4172,
"cdna_end": null,
"cdna_length": 8329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3989G>C",
"hgvs_p": "p.Arg1330Pro",
"transcript": "ENST00000649575.2",
"protein_id": "ENSP00000497106.2",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1619,
"cds_start": 3989,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3950G>C",
"hgvs_p": "p.Arg1317Pro",
"transcript": "NM_001384447.1",
"protein_id": "NP_001371376.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3950,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 8290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.4016G>C",
"hgvs_p": "p.Arg1339Pro",
"transcript": "NM_001384449.1",
"protein_id": "NP_001371378.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4016,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 4199,
"cdna_end": null,
"cdna_length": 8224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3950G>C",
"hgvs_p": "p.Arg1317Pro",
"transcript": "NM_001384450.1",
"protein_id": "NP_001371379.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1562,
"cds_start": 3950,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Arg1047Pro",
"transcript": "NM_001419685.1",
"protein_id": "NP_001406614.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 7408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3077G>C",
"hgvs_p": "p.Arg1026Pro",
"transcript": "NM_001419702.1",
"protein_id": "NP_001406631.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3002G>C",
"hgvs_p": "p.Arg1001Pro",
"transcript": "NM_001290294.2",
"protein_id": "NP_001277223.2",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3719G>C",
"hgvs_p": "p.Arg1240Pro",
"transcript": "XM_011539150.3",
"protein_id": "XP_011537452.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3719,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3741+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384453.1",
"protein_id": "NP_001371382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3741+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384454.1",
"protein_id": "NP_001371383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3675+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384451.1",
"protein_id": "NP_001371380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3645+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000607232.5",
"protein_id": "ENSP00000475901.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2932-215G>C",
"hgvs_p": null,
"transcript": "NM_001034955.2",
"protein_id": "NP_001030127.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2932-215G>C",
"hgvs_p": null,
"transcript": "ENST00000371246.6",
"protein_id": "ENSP00000360292.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2784+2113G>C",
"hgvs_p": null,
"transcript": "NM_001419704.1",
"protein_id": "NP_001406633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2775+2113G>C",
"hgvs_p": null,
"transcript": "NM_001290296.2",
"protein_id": "NP_001277225.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2775+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000354106.7",
"protein_id": "ENSP00000277984.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2697+2113G>C",
"hgvs_p": null,
"transcript": "NM_001419703.1",
"protein_id": "NP_001406632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2607+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377197.1",
"protein_id": "NP_001364126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2538+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377198.1",
"protein_id": "NP_001364127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2418+2113G>C",
"hgvs_p": null,
"transcript": "NM_001034956.2",
"protein_id": "NP_001030128.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2475+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377199.1",
"protein_id": "NP_001364128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2466+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384458.1",
"protein_id": "NP_001371387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 901,
"cds_start": -4,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2463+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377200.1",
"protein_id": "NP_001364129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2457+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384459.1",
"protein_id": "NP_001371388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2448+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377201.1",
"protein_id": "NP_001364130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2394+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384460.1",
"protein_id": "NP_001371389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": -4,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2352+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377202.1",
"protein_id": "NP_001364131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000649911.2",
"protein_id": "ENSP00000497554.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 855,
"cds_start": -4,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2301+2113G>C",
"hgvs_p": null,
"transcript": "NM_001290298.3",
"protein_id": "NP_001277227.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2298+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384461.1",
"protein_id": "NP_001371390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": -4,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2271+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384462.1",
"protein_id": "NP_001371391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2265+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377203.1",
"protein_id": "NP_001364132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2262+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377204.1",
"protein_id": "NP_001364133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2262+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384465.1",
"protein_id": "NP_001371394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2238+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377205.1",
"protein_id": "NP_001364134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2211+2113G>C",
"hgvs_p": null,
"transcript": "NM_015385.4",
"protein_id": "NP_056200.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "NM_001290297.3",
"protein_id": "NP_001277226.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384455.1",
"protein_id": "NP_001371384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384456.1",
"protein_id": "NP_001371385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384457.1",
"protein_id": "NP_001371386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2196+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000371239.5",
"protein_id": "ENSP00000360283.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2190+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377206.1",
"protein_id": "NP_001364135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2169+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377207.1",
"protein_id": "NP_001364136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": -4,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1923+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000647619.2",
"protein_id": "ENSP00000496969.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2106+2113G>C",
"hgvs_p": null,
"transcript": "NM_024991.3",
"protein_id": "NP_079267.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2097+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377208.1",
"protein_id": "NP_001364137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2094+2113G>C",
"hgvs_p": null,
"transcript": "NM_001377209.1",
"protein_id": "NP_001364138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2067+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384463.1",
"protein_id": "NP_001371392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2055+2113G>C",
"hgvs_p": null,
"transcript": "NM_001384464.1",
"protein_id": "NP_001371393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2010+2113G>C",
"hgvs_p": null,
"transcript": "NM_001290295.2",
"protein_id": "NP_001277224.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1983+2113G>C",
"hgvs_p": null,
"transcript": "NM_001034957.3",
"protein_id": "NP_001030129.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1815+2113G>C",
"hgvs_p": null,
"transcript": "NM_006434.4",
"protein_id": "NP_006425.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1815+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000371241.5",
"protein_id": "ENSP00000360285.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1281+2113G>C",
"hgvs_p": null,
"transcript": "ENST00000634504.1",
"protein_id": "ENSP00000489022.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3444+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015501.3",
"protein_id": "XP_016870990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3351+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015502.3",
"protein_id": "XP_016870991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3276+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015503.3",
"protein_id": "XP_016870992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": -4,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3192+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015505.3",
"protein_id": "XP_016870994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": -4,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3183+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015507.3",
"protein_id": "XP_016870996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": -4,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3108+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424468.1",
"protein_id": "XP_047280424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3024+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015510.3",
"protein_id": "XP_016870999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2775+2113G>C",
"hgvs_p": null,
"transcript": "XM_006717589.3",
"protein_id": "XP_006717652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2634+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015515.3",
"protein_id": "XP_016871004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2559+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424469.1",
"protein_id": "XP_047280425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2550+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015517.3",
"protein_id": "XP_016871006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2511+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424470.1",
"protein_id": "XP_047280426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 916,
"cds_start": -4,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2436+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424471.1",
"protein_id": "XP_047280427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2379+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015523.2",
"protein_id": "XP_016871012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2337+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015525.2",
"protein_id": "XP_016871014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2307+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424472.1",
"protein_id": "XP_047280428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2295+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424473.1",
"protein_id": "XP_047280429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": -4,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2280+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424474.1",
"protein_id": "XP_047280430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2184+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424475.1",
"protein_id": "XP_047280431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2181+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015530.3",
"protein_id": "XP_016871019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2163+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015532.3",
"protein_id": "XP_016871021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": -4,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2142+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015533.2",
"protein_id": "XP_016871022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2085+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015536.2",
"protein_id": "XP_016871025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": -4,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2079+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015537.3",
"protein_id": "XP_016871026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2070+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424476.1",
"protein_id": "XP_047280432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2067+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015539.2",
"protein_id": "XP_016871028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2058+2113G>C",
"hgvs_p": null,
"transcript": "XM_017015540.2",
"protein_id": "XP_016871029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1938+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424477.1",
"protein_id": "XP_047280433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1911+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424478.1",
"protein_id": "XP_047280434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1842+2113G>C",
"hgvs_p": null,
"transcript": "XM_047424479.1",
"protein_id": "XP_047280435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"dbsnp": "rs193920900",
"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": 0.07439395785331726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.1639,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.42,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371247.7",
"gene_symbol": "SORBS1",
"hgnc_id": 14565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Arg1047Pro"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}