← 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: 10-96013834-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96013834&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96013834,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349008.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "NM_001349008.3",
"protein_id": "NP_001335937.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "ENST00000646931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349008.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "ENST00000646931.3",
"protein_id": "ENSP00000496666.2",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "NM_001349008.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646931.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.529C>T",
"hgvs_p": null,
"transcript": "ENST00000344386.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000344386.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2573C>T",
"hgvs_p": "p.Thr858Ile",
"transcript": "ENST00000636965.1",
"protein_id": "ENSP00000490447.1",
"transcript_support_level": 5,
"aa_start": 858,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636965.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "NM_001159747.2",
"protein_id": "NP_001153219.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 401,
"cds_start": 365,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159747.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "NM_001001732.4",
"protein_id": "NP_001001732.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 322,
"cds_start": 365,
"cds_end": null,
"cds_length": 969,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001732.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "XM_024447995.2",
"protein_id": "XP_024303763.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3587,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447995.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Thr1150Ile",
"transcript": "XM_024447996.2",
"protein_id": "XP_024303764.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447996.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "XM_024447998.2",
"protein_id": "XP_024303766.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447998.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3344C>T",
"hgvs_p": "p.Thr1115Ile",
"transcript": "XM_024447999.2",
"protein_id": "XP_024303767.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3344,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447999.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3290C>T",
"hgvs_p": "p.Thr1097Ile",
"transcript": "XM_024448001.2",
"protein_id": "XP_024303769.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3290,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448001.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "XM_024448002.2",
"protein_id": "XP_024303770.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448002.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile",
"transcript": "XM_024448003.2",
"protein_id": "XP_024303771.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448003.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2996C>T",
"hgvs_p": "p.Thr999Ile",
"transcript": "XM_024448004.2",
"protein_id": "XP_024303772.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448004.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2912C>T",
"hgvs_p": "p.Thr971Ile",
"transcript": "XM_011539789.4",
"protein_id": "XP_011538091.2",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2912,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539789.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2642C>T",
"hgvs_p": "p.Thr881Ile",
"transcript": "XM_047425225.1",
"protein_id": "XP_047281181.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425225.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2465C>T",
"hgvs_p": "p.Thr822Ile",
"transcript": "XM_047425226.1",
"protein_id": "XP_047281182.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2465,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425226.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2351C>T",
"hgvs_p": "p.Thr784Ile",
"transcript": "XM_047425227.1",
"protein_id": "XP_047281183.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2351,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3045+3911C>T",
"hgvs_p": null,
"transcript": "XM_024448005.2",
"protein_id": "XP_024303773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.576C>T",
"hgvs_p": null,
"transcript": "ENST00000410012.7",
"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": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000410012.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.780C>T",
"hgvs_p": null,
"transcript": "ENST00000424464.6",
"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": 818,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000424464.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.275+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000416301.5",
"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": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000416301.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.216+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000451364.5",
"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": 716,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451364.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.260-63306G>A",
"hgvs_p": null,
"transcript": "ENST00000452728.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000452728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.273+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000454638.5",
"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": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000454638.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.*914+3911C>T",
"hgvs_p": null,
"transcript": "ENST00000475252.2",
"protein_id": "ENSP00000490156.1",
"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": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475252.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.296+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000656604.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.312-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000668038.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668038.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.300+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000669711.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000669711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.274-32241G>A",
"hgvs_p": null,
"transcript": "ENST00000671323.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000671323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.298+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000684888.2",
"protein_id": null,
"transcript_support_level": null,
"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": 831,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000684888.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.297-32241G>A",
"hgvs_p": null,
"transcript": "ENST00000686747.1",
"protein_id": null,
"transcript_support_level": null,
"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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.312-17553G>A",
"hgvs_p": null,
"transcript": "ENST00000693608.3",
"protein_id": null,
"transcript_support_level": null,
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000693608.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.412+13373G>A",
"hgvs_p": null,
"transcript": "ENST00000701926.2",
"protein_id": null,
"transcript_support_level": null,
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000701926.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.275+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782495.1",
"protein_id": null,
"transcript_support_level": null,
"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": 701,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.298+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782496.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.300+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782497.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.309+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782498.1",
"protein_id": null,
"transcript_support_level": null,
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.296+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782499.1",
"protein_id": null,
"transcript_support_level": null,
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.281+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782500.1",
"protein_id": null,
"transcript_support_level": null,
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.292+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782501.1",
"protein_id": null,
"transcript_support_level": null,
"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": 515,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.261+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782502.1",
"protein_id": null,
"transcript_support_level": null,
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.269-32241G>A",
"hgvs_p": null,
"transcript": "ENST00000782503.1",
"protein_id": null,
"transcript_support_level": null,
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.268+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782504.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.316+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782505.1",
"protein_id": null,
"transcript_support_level": null,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.311+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782506.1",
"protein_id": null,
"transcript_support_level": null,
"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": 622,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.438+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782507.1",
"protein_id": null,
"transcript_support_level": null,
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.412+75432G>A",
"hgvs_p": null,
"transcript": "ENST00000782508.1",
"protein_id": null,
"transcript_support_level": null,
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.297-63306G>A",
"hgvs_p": null,
"transcript": "ENST00000782509.1",
"protein_id": null,
"transcript_support_level": null,
"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": 607,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.209-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000782510.1",
"protein_id": null,
"transcript_support_level": null,
"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": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.303-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000782511.1",
"protein_id": null,
"transcript_support_level": null,
"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": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.69-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000782512.1",
"protein_id": null,
"transcript_support_level": null,
"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": 308,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.131-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000782513.1",
"protein_id": null,
"transcript_support_level": null,
"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": 367,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.262-72542G>A",
"hgvs_p": null,
"transcript": "ENST00000782514.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.300-63306G>A",
"hgvs_p": null,
"transcript": "ENST00000782516.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.297-17553G>A",
"hgvs_p": null,
"transcript": "ENST00000782517.1",
"protein_id": null,
"transcript_support_level": null,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.268-14757G>A",
"hgvs_p": null,
"transcript": "ENST00000782518.1",
"protein_id": null,
"transcript_support_level": null,
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.653+12581G>A",
"hgvs_p": null,
"transcript": "ENST00000782519.1",
"protein_id": null,
"transcript_support_level": null,
"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": 828,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782519.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.415-17553G>A",
"hgvs_p": null,
"transcript": "ENST00000782520.1",
"protein_id": null,
"transcript_support_level": null,
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.198-17553G>A",
"hgvs_p": null,
"transcript": "ENST00000782521.1",
"protein_id": null,
"transcript_support_level": null,
"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": 372,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.299-14757G>A",
"hgvs_p": null,
"transcript": "ENST00000782523.1",
"protein_id": null,
"transcript_support_level": null,
"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": 826,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.282-9648G>A",
"hgvs_p": null,
"transcript": "ENST00000782524.1",
"protein_id": null,
"transcript_support_level": null,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.785+7362G>A",
"hgvs_p": null,
"transcript": "ENST00000782525.1",
"protein_id": null,
"transcript_support_level": null,
"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": 910,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.296+75432G>A",
"hgvs_p": null,
"transcript": "NR_038444.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.3054+3911C>T",
"hgvs_p": null,
"transcript": "XR_002956979.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002956979.2"
}
],
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"dbsnp": "rs202065763",
"frequency_reference_population": 6.9023304e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90233e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0938345193862915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.729,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": "NM_001349008.3",
"gene_symbol": "CC2D2B",
"hgnc_id": 31666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3473C>T",
"hgvs_p": "p.Thr1158Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000416301.5",
"gene_symbol": "ENTPD1-AS1",
"hgnc_id": 45203,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.275+75432G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}