← 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: 1-945123-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=945123&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 945123,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015658.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly",
"transcript": "NM_015658.4",
"protein_id": "NP_056473.3",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 749,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": "ENST00000327044.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015658.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly",
"transcript": "ENST00000327044.7",
"protein_id": "ENSP00000317992.6",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 749,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": "NM_015658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327044.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2293C>G",
"hgvs_p": "p.Arg765Gly",
"transcript": "ENST00000968819.1",
"protein_id": "ENSP00000638878.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 826,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968819.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2179C>G",
"hgvs_p": "p.Arg727Gly",
"transcript": "ENST00000934955.1",
"protein_id": "ENSP00000605014.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 788,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934955.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2149C>G",
"hgvs_p": "p.Arg717Gly",
"transcript": "ENST00000934954.1",
"protein_id": "ENSP00000605013.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 778,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934954.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2146C>G",
"hgvs_p": "p.Arg716Gly",
"transcript": "ENST00000934957.1",
"protein_id": "ENSP00000605016.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 777,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934957.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2146C>G",
"hgvs_p": "p.Arg716Gly",
"transcript": "ENST00000968816.1",
"protein_id": "ENSP00000638875.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 777,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968816.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2143C>G",
"hgvs_p": "p.Arg715Gly",
"transcript": "ENST00000934949.1",
"protein_id": "ENSP00000605008.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 776,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934949.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.Arg713Gly",
"transcript": "ENST00000870729.1",
"protein_id": "ENSP00000540788.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 774,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870729.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2149C>G",
"hgvs_p": "p.Arg717Gly",
"transcript": "ENST00000968806.1",
"protein_id": "ENSP00000638865.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 773,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968806.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"transcript": "ENST00000870734.1",
"protein_id": "ENSP00000540793.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 772,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870734.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2146C>G",
"hgvs_p": "p.Arg716Gly",
"transcript": "ENST00000968822.1",
"protein_id": "ENSP00000638881.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968822.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2128C>G",
"hgvs_p": "p.Arg710Gly",
"transcript": "ENST00000968812.1",
"protein_id": "ENSP00000638871.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 771,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968812.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2143C>G",
"hgvs_p": "p.Arg715Gly",
"transcript": "ENST00000968821.1",
"protein_id": "ENSP00000638880.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 771,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968821.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.Arg713Gly",
"transcript": "ENST00000870726.1",
"protein_id": "ENSP00000540785.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 769,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870726.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2119C>G",
"hgvs_p": "p.Arg707Gly",
"transcript": "ENST00000934958.1",
"protein_id": "ENSP00000605017.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 768,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934958.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"transcript": "ENST00000934941.1",
"protein_id": "ENSP00000605000.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 767,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934941.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Arg709Gly",
"transcript": "ENST00000870733.1",
"protein_id": "ENSP00000540792.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 765,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870733.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2095C>G",
"hgvs_p": "p.Arg699Gly",
"transcript": "ENST00000934959.1",
"protein_id": "ENSP00000605018.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 760,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934959.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2089C>G",
"hgvs_p": "p.Arg697Gly",
"transcript": "ENST00000968820.1",
"protein_id": "ENSP00000638879.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 758,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968820.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2098C>G",
"hgvs_p": "p.Arg700Gly",
"transcript": "ENST00000870738.1",
"protein_id": "ENSP00000540797.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 756,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870738.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000934950.1",
"protein_id": "ENSP00000605009.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 756,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934950.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2095C>G",
"hgvs_p": "p.Arg699Gly",
"transcript": "ENST00000870735.1",
"protein_id": "ENSP00000540794.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 755,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870735.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2080C>G",
"hgvs_p": "p.Arg694Gly",
"transcript": "ENST00000934939.1",
"protein_id": "ENSP00000604998.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 755,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934939.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly",
"transcript": "ENST00000870725.1",
"protein_id": "ENSP00000540784.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 754,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870725.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2092C>G",
"hgvs_p": "p.Arg698Gly",
"transcript": "ENST00000934945.1",
"protein_id": "ENSP00000605004.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 754,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934945.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2074C>G",
"hgvs_p": "p.Arg692Gly",
"transcript": "ENST00000934934.1",
"protein_id": "ENSP00000604993.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 753,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934934.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2089C>G",
"hgvs_p": "p.Arg697Gly",
"transcript": "ENST00000968824.1",
"protein_id": "ENSP00000638883.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 753,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968824.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2071C>G",
"hgvs_p": "p.Arg691Gly",
"transcript": "ENST00000870728.1",
"protein_id": "ENSP00000540787.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 752,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870728.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2068C>G",
"hgvs_p": "p.Arg690Gly",
"transcript": "ENST00000870731.1",
"protein_id": "ENSP00000540790.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 751,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870731.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2065C>G",
"hgvs_p": "p.Arg689Gly",
"transcript": "ENST00000934937.1",
"protein_id": "ENSP00000604996.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 750,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934937.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2080C>G",
"hgvs_p": "p.Arg694Gly",
"transcript": "ENST00000968810.1",
"protein_id": "ENSP00000638869.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 750,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968810.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2074C>G",
"hgvs_p": "p.Arg692Gly",
"transcript": "ENST00000934933.1",
"protein_id": "ENSP00000604992.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 748,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934933.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly",
"transcript": "ENST00000968807.1",
"protein_id": "ENSP00000638866.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 747,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968807.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2068C>G",
"hgvs_p": "p.Arg690Gly",
"transcript": "ENST00000870727.1",
"protein_id": "ENSP00000540786.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 746,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870727.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2065C>G",
"hgvs_p": "p.Arg689Gly",
"transcript": "ENST00000870730.1",
"protein_id": "ENSP00000540789.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 745,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870730.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly",
"transcript": "ENST00000968809.1",
"protein_id": "ENSP00000638868.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 745,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968809.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2047C>G",
"hgvs_p": "p.Arg683Gly",
"transcript": "ENST00000934940.1",
"protein_id": "ENSP00000604999.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 739,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934940.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2029C>G",
"hgvs_p": "p.Arg677Gly",
"transcript": "ENST00000870739.1",
"protein_id": "ENSP00000540798.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 738,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870739.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2029C>G",
"hgvs_p": "p.Arg677Gly",
"transcript": "ENST00000934935.1",
"protein_id": "ENSP00000604994.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 733,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934935.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1978C>G",
"hgvs_p": "p.Arg660Gly",
"transcript": "ENST00000934953.1",
"protein_id": "ENSP00000605012.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 721,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934953.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1993C>G",
"hgvs_p": "p.Arg665Gly",
"transcript": "ENST00000968818.1",
"protein_id": "ENSP00000638877.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 721,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968818.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Arg659Gly",
"transcript": "ENST00000870732.1",
"protein_id": "ENSP00000540791.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 720,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870732.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000934946.1",
"protein_id": "ENSP00000605005.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 716,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934946.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000934947.1",
"protein_id": "ENSP00000605006.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 716,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934947.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000934948.1",
"protein_id": "ENSP00000605007.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 716,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934948.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000934951.1",
"protein_id": "ENSP00000605010.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 716,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934951.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1978C>G",
"hgvs_p": "p.Arg660Gly",
"transcript": "ENST00000968808.1",
"protein_id": "ENSP00000638867.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 716,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968808.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Arg659Gly",
"transcript": "ENST00000934938.1",
"protein_id": "ENSP00000604997.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934938.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1951C>G",
"hgvs_p": "p.Arg651Gly",
"transcript": "ENST00000934956.1",
"protein_id": "ENSP00000605015.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 712,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934956.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000934942.1",
"protein_id": "ENSP00000605001.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 711,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934942.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000968813.1",
"protein_id": "ENSP00000638872.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 711,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968813.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Arg645Gly",
"transcript": "ENST00000968815.1",
"protein_id": "ENSP00000638874.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 706,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968815.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Arg642Gly",
"transcript": "ENST00000934932.1",
"protein_id": "ENSP00000604991.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 703,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934932.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Arg645Gly",
"transcript": "ENST00000968805.1",
"protein_id": "ENSP00000638864.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 701,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968805.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Arg642Gly",
"transcript": "ENST00000870736.1",
"protein_id": "ENSP00000540795.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 698,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870736.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Arg642Gly",
"transcript": "ENST00000968814.1",
"protein_id": "ENSP00000638873.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 698,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968814.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1810C>G",
"hgvs_p": "p.Arg604Gly",
"transcript": "ENST00000934944.1",
"protein_id": "ENSP00000605003.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 665,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934944.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1822C>G",
"hgvs_p": "p.Arg608Gly",
"transcript": "ENST00000968811.1",
"protein_id": "ENSP00000638870.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 664,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968811.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Arg607Gly",
"transcript": "ENST00000934936.1",
"protein_id": "ENSP00000604995.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 663,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934936.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1717C>G",
"hgvs_p": "p.Arg573Gly",
"transcript": "ENST00000934943.1",
"protein_id": "ENSP00000605002.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 634,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934943.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1717C>G",
"hgvs_p": "p.Arg573Gly",
"transcript": "ENST00000870737.1",
"protein_id": "ENSP00000540796.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 629,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870737.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1558C>G",
"hgvs_p": "p.Arg520Gly",
"transcript": "ENST00000934952.1",
"protein_id": "ENSP00000605011.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 581,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934952.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1558C>G",
"hgvs_p": "p.Arg520Gly",
"transcript": "ENST00000968817.1",
"protein_id": "ENSP00000638876.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 576,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968817.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1102C>G",
"hgvs_p": "p.Arg368Gly",
"transcript": "ENST00000968823.1",
"protein_id": "ENSP00000638882.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 429,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968823.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "n.3524C>G",
"hgvs_p": null,
"transcript": "ENST00000477976.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "n.933C>G",
"hgvs_p": null,
"transcript": "ENST00000483767.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483767.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "n.*196C>G",
"hgvs_p": null,
"transcript": "ENST00000496938.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 149,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496938.1"
}
],
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"dbsnp": "rs140901809",
"frequency_reference_population": 0.000004111549,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411155,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.062386900186538696,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0645,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.961,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015658.4",
"gene_symbol": "NOC2L",
"hgnc_id": 24517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Arg693Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}