← 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: 10-35013788-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35013788&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35013788,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003591.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "NM_003591.4",
"protein_id": "NP_003582.2",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "ENST00000374749.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000374749.8",
"protein_id": "ENSP00000363881.3",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "NM_003591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000374751.7",
"protein_id": "ENSP00000363883.3",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1957G>T",
"hgvs_p": "p.Ala653Ser",
"transcript": "NM_001198778.2",
"protein_id": "NP_001185707.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 764,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1957G>T",
"hgvs_p": "p.Ala653Ser",
"transcript": "ENST00000421317.5",
"protein_id": "ENSP00000414095.2",
"transcript_support_level": 2,
"aa_start": 653,
"aa_end": null,
"aa_length": 764,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "NM_001198779.1",
"protein_id": "NP_001185708.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 758,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000537177.6",
"protein_id": "ENSP00000444856.2",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 758,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000688571.1",
"protein_id": "ENSP00000509574.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 758,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1924G>T",
"hgvs_p": "p.Ala642Ser",
"transcript": "ENST00000687524.1",
"protein_id": "ENSP00000510171.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 753,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "NM_001198777.2",
"protein_id": "NP_001185706.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000374748.5",
"protein_id": "ENSP00000363880.1",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000673636.2",
"protein_id": "ENSP00000501215.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000690393.1",
"protein_id": "ENSP00000510691.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000691974.1",
"protein_id": "ENSP00000508908.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1891G>T",
"hgvs_p": "p.Ala631Ser",
"transcript": "ENST00000691263.1",
"protein_id": "ENSP00000510240.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 742,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "ENST00000626172.3",
"protein_id": "ENSP00000485986.1",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 706,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1747G>T",
"hgvs_p": "p.Ala583Ser",
"transcript": "ENST00000374746.6",
"protein_id": "ENSP00000363878.2",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 694,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1711G>T",
"hgvs_p": "p.Ala571Ser",
"transcript": "NM_001324375.2",
"protein_id": "NP_001311304.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 682,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1711G>T",
"hgvs_p": "p.Ala571Ser",
"transcript": "ENST00000690123.1",
"protein_id": "ENSP00000508924.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 682,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Ala503Ser",
"transcript": "NM_001324376.2",
"protein_id": "NP_001311305.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 614,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Ala697Ser",
"transcript": "XM_011519743.1",
"protein_id": "XP_011518045.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 808,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Ala697Ser",
"transcript": "XM_011519744.1",
"protein_id": "XP_011518046.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 808,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Ala697Ser",
"transcript": "XM_011519745.2",
"protein_id": "XP_011518047.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 808,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Ala697Ser",
"transcript": "XM_047425852.1",
"protein_id": "XP_047281808.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 808,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser",
"transcript": "XM_011519747.2",
"protein_id": "XP_011518049.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 745,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1583G>T",
"hgvs_p": null,
"transcript": "ENST00000374754.9",
"protein_id": "ENSP00000363886.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*957G>T",
"hgvs_p": null,
"transcript": "ENST00000684965.1",
"protein_id": "ENSP00000509100.1",
"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": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1559G>T",
"hgvs_p": null,
"transcript": "ENST00000685681.1",
"protein_id": "ENSP00000508572.1",
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1290G>T",
"hgvs_p": null,
"transcript": "ENST00000687194.1",
"protein_id": "ENSP00000509491.1",
"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": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.2911G>T",
"hgvs_p": null,
"transcript": "ENST00000687282.1",
"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": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.2233G>T",
"hgvs_p": null,
"transcript": "ENST00000688044.1",
"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": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.3992G>T",
"hgvs_p": null,
"transcript": "ENST00000688252.1",
"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": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.2919G>T",
"hgvs_p": null,
"transcript": "ENST00000688390.1",
"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": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"transcript": "ENST00000688541.1",
"protein_id": "ENSP00000509171.1",
"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": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.1449G>T",
"hgvs_p": null,
"transcript": "ENST00000688705.1",
"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": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000691272.1",
"protein_id": "ENSP00000508531.1",
"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": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*2310G>T",
"hgvs_p": null,
"transcript": "ENST00000691457.1",
"protein_id": "ENSP00000509618.1",
"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": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000691858.1",
"protein_id": "ENSP00000509932.1",
"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": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*755G>T",
"hgvs_p": null,
"transcript": "ENST00000691962.1",
"protein_id": "ENSP00000508699.1",
"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": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.1885G>T",
"hgvs_p": null,
"transcript": "ENST00000692456.1",
"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": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.2995G>T",
"hgvs_p": null,
"transcript": "ENST00000692866.1",
"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": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"transcript": "ENST00000693739.1",
"protein_id": "ENSP00000508657.1",
"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": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1583G>T",
"hgvs_p": null,
"transcript": "ENST00000374754.9",
"protein_id": "ENSP00000363886.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*957G>T",
"hgvs_p": null,
"transcript": "ENST00000684965.1",
"protein_id": "ENSP00000509100.1",
"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": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1559G>T",
"hgvs_p": null,
"transcript": "ENST00000685681.1",
"protein_id": "ENSP00000508572.1",
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1290G>T",
"hgvs_p": null,
"transcript": "ENST00000687194.1",
"protein_id": "ENSP00000509491.1",
"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": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"transcript": "ENST00000688541.1",
"protein_id": "ENSP00000509171.1",
"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": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000691272.1",
"protein_id": "ENSP00000508531.1",
"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": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*2310G>T",
"hgvs_p": null,
"transcript": "ENST00000691457.1",
"protein_id": "ENSP00000509618.1",
"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": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000691858.1",
"protein_id": "ENSP00000509932.1",
"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": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*755G>T",
"hgvs_p": null,
"transcript": "ENST00000691962.1",
"protein_id": "ENSP00000508699.1",
"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": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"transcript": "ENST00000693739.1",
"protein_id": "ENSP00000508657.1",
"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": 2691,
"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": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1888-75G>T",
"hgvs_p": null,
"transcript": "ENST00000691201.1",
"protein_id": "ENSP00000509778.1",
"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": 2663,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1888-1824G>T",
"hgvs_p": null,
"transcript": "ENST00000690092.1",
"protein_id": "ENSP00000508675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2599,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1171-1824G>T",
"hgvs_p": null,
"transcript": "ENST00000686302.1",
"protein_id": "ENSP00000510342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.-172G>T",
"hgvs_p": null,
"transcript": "ENST00000689036.1",
"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": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"dbsnp": "rs1308679943",
"frequency_reference_population": 0.0000033157862,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000295026,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06064796447753906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.924,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003591.4",
"gene_symbol": "CUL2",
"hgnc_id": 2552,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1900G>T",
"hgvs_p": "p.Ala634Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}