← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-151493859-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151493859&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151493859,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 175,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24588C>T",
"hgvs_p": "p.Tyr8196Tyr",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8196,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24588,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24780,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 175,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24588C>T",
"hgvs_p": "p.Tyr8196Tyr",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8196,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24588,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24780,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 175,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24588C>T",
"hgvs_p": "p.Tyr8196Tyr",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8196,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24588,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24780,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 175,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24588C>T",
"hgvs_p": "p.Tyr8196Tyr",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8196,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24588,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24780,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.481-1370G>A",
"hgvs_p": null,
"transcript": "ENST00000457745.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 176,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24693C>T",
"hgvs_p": "p.Tyr8231Tyr",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8231,
"aa_end": null,
"aa_length": 8560,
"cds_start": 24693,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 24885,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 143,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19020C>T",
"hgvs_p": "p.Tyr6340Tyr",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 6340,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19020,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19212,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 143,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19020C>T",
"hgvs_p": "p.Tyr6340Tyr",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 6340,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19020,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19223,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Tyr395Tyr",
"transcript": "ENST00000688578.1",
"protein_id": "ENSP00000509628.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 724,
"cds_start": 1185,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Tyr329Tyr",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 658,
"cds_start": 987,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1023C>T",
"hgvs_p": "p.Tyr341Tyr",
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 399,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24495C>T",
"hgvs_p": "p.Tyr8165Tyr",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8165,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24495,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24687,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24495C>T",
"hgvs_p": "p.Tyr8165Tyr",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8165,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24495,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24687,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24495C>T",
"hgvs_p": "p.Tyr8165Tyr",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8165,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24495,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24687,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24495C>T",
"hgvs_p": "p.Tyr8165Tyr",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8165,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24495,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24687,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24477C>T",
"hgvs_p": "p.Tyr8159Tyr",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8159,
"aa_end": null,
"aa_length": 8488,
"cds_start": 24477,
"cds_end": null,
"cds_length": 25467,
"cdna_start": 24669,
"cdna_end": null,
"cdna_length": 26080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24402C>T",
"hgvs_p": "p.Tyr8134Tyr",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8134,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24402,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24594,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24402C>T",
"hgvs_p": "p.Tyr8134Tyr",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8134,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24402,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24594,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24402C>T",
"hgvs_p": "p.Tyr8134Tyr",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 8134,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24402,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24594,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24384C>T",
"hgvs_p": "p.Tyr8128Tyr",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 8128,
"aa_end": null,
"aa_length": 8457,
"cds_start": 24384,
"cds_end": null,
"cds_length": 25374,
"cdna_start": 24576,
"cdna_end": null,
"cdna_length": 25987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24309C>T",
"hgvs_p": "p.Tyr8103Tyr",
"transcript": "XM_005246599.3",
"protein_id": "XP_005246656.1",
"transcript_support_level": null,
"aa_start": 8103,
"aa_end": null,
"aa_length": 8432,
"cds_start": 24309,
"cds_end": null,
"cds_length": 25299,
"cdna_start": 24501,
"cdna_end": null,
"cdna_length": 25912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24216C>T",
"hgvs_p": "p.Tyr8072Tyr",
"transcript": "XM_005246601.3",
"protein_id": "XP_005246658.1",
"transcript_support_level": null,
"aa_start": 8072,
"aa_end": null,
"aa_length": 8401,
"cds_start": 24216,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 24408,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24216C>T",
"hgvs_p": "p.Tyr8072Tyr",
"transcript": "XM_005246602.3",
"protein_id": "XP_005246659.1",
"transcript_support_level": null,
"aa_start": 8072,
"aa_end": null,
"aa_length": 8401,
"cds_start": 24216,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 24408,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24216C>T",
"hgvs_p": "p.Tyr8072Tyr",
"transcript": "XM_047444478.1",
"protein_id": "XP_047300434.1",
"transcript_support_level": null,
"aa_start": 8072,
"aa_end": null,
"aa_length": 8401,
"cds_start": 24216,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 24408,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24123C>T",
"hgvs_p": "p.Tyr8041Tyr",
"transcript": "XM_005246606.3",
"protein_id": "XP_005246663.1",
"transcript_support_level": null,
"aa_start": 8041,
"aa_end": null,
"aa_length": 8370,
"cds_start": 24123,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 24315,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24123C>T",
"hgvs_p": "p.Tyr8041Tyr",
"transcript": "XM_006712541.3",
"protein_id": "XP_006712604.1",
"transcript_support_level": null,
"aa_start": 8041,
"aa_end": null,
"aa_length": 8370,
"cds_start": 24123,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 24315,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24123C>T",
"hgvs_p": "p.Tyr8041Tyr",
"transcript": "XM_006712542.3",
"protein_id": "XP_006712605.1",
"transcript_support_level": null,
"aa_start": 8041,
"aa_end": null,
"aa_length": 8370,
"cds_start": 24123,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 24315,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24123C>T",
"hgvs_p": "p.Tyr8041Tyr",
"transcript": "XM_017004179.2",
"protein_id": "XP_016859668.1",
"transcript_support_level": null,
"aa_start": 8041,
"aa_end": null,
"aa_length": 8370,
"cds_start": 24123,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 24315,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24123C>T",
"hgvs_p": "p.Tyr8041Tyr",
"transcript": "XM_017004180.2",
"protein_id": "XP_016859669.1",
"transcript_support_level": null,
"aa_start": 8041,
"aa_end": null,
"aa_length": 8370,
"cds_start": 24123,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 24315,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 176,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24030C>T",
"hgvs_p": "p.Tyr8010Tyr",
"transcript": "XM_005246608.3",
"protein_id": "XP_005246665.1",
"transcript_support_level": null,
"aa_start": 8010,
"aa_end": null,
"aa_length": 8339,
"cds_start": 24030,
"cds_end": null,
"cds_length": 25020,
"cdna_start": 24222,
"cdna_end": null,
"cdna_length": 25633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 176,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24030C>T",
"hgvs_p": "p.Tyr8010Tyr",
"transcript": "XM_017004181.2",
"protein_id": "XP_016859670.1",
"transcript_support_level": null,
"aa_start": 8010,
"aa_end": null,
"aa_length": 8339,
"cds_start": 24030,
"cds_end": null,
"cds_length": 25020,
"cdna_start": 24222,
"cdna_end": null,
"cdna_length": 25633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23937C>T",
"hgvs_p": "p.Tyr7979Tyr",
"transcript": "XM_005246610.3",
"protein_id": "XP_005246667.1",
"transcript_support_level": null,
"aa_start": 7979,
"aa_end": null,
"aa_length": 8308,
"cds_start": 23937,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 24129,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23937C>T",
"hgvs_p": "p.Tyr7979Tyr",
"transcript": "XM_047444479.1",
"protein_id": "XP_047300435.1",
"transcript_support_level": null,
"aa_start": 7979,
"aa_end": null,
"aa_length": 8308,
"cds_start": 23937,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 24129,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23859C>T",
"hgvs_p": "p.Tyr7953Tyr",
"transcript": "XM_005246612.3",
"protein_id": "XP_005246669.1",
"transcript_support_level": null,
"aa_start": 7953,
"aa_end": null,
"aa_length": 8282,
"cds_start": 23859,
"cds_end": null,
"cds_length": 24849,
"cdna_start": 24051,
"cdna_end": null,
"cdna_length": 25462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23859C>T",
"hgvs_p": "p.Tyr7953Tyr",
"transcript": "XM_005246613.3",
"protein_id": "XP_005246670.1",
"transcript_support_level": null,
"aa_start": 7953,
"aa_end": null,
"aa_length": 8282,
"cds_start": 23859,
"cds_end": null,
"cds_length": 24849,
"cdna_start": 24051,
"cdna_end": null,
"cdna_length": 25462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 167,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23844C>T",
"hgvs_p": "p.Tyr7948Tyr",
"transcript": "XM_011511225.3",
"protein_id": "XP_011509527.1",
"transcript_support_level": null,
"aa_start": 7948,
"aa_end": null,
"aa_length": 8277,
"cds_start": 23844,
"cds_end": null,
"cds_length": 24834,
"cdna_start": 24036,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.22401C>T",
"hgvs_p": "p.Tyr7467Tyr",
"transcript": "XM_011511226.3",
"protein_id": "XP_011509528.1",
"transcript_support_level": null,
"aa_start": 7467,
"aa_end": null,
"aa_length": 7796,
"cds_start": 22401,
"cds_end": null,
"cds_length": 23391,
"cdna_start": 22593,
"cdna_end": null,
"cdna_length": 24004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 159,
"exon_rank_end": null,
"exon_count": 166,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21672C>T",
"hgvs_p": "p.Tyr7224Tyr",
"transcript": "XM_005246617.3",
"protein_id": "XP_005246674.1",
"transcript_support_level": null,
"aa_start": 7224,
"aa_end": null,
"aa_length": 7553,
"cds_start": 21672,
"cds_end": null,
"cds_length": 22662,
"cdna_start": 21864,
"cdna_end": null,
"cdna_length": 23275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 151,
"exon_rank_end": null,
"exon_count": 158,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.20214C>T",
"hgvs_p": "p.Tyr6738Tyr",
"transcript": "XM_011511227.3",
"protein_id": "XP_011509529.1",
"transcript_support_level": null,
"aa_start": 6738,
"aa_end": null,
"aa_length": 7067,
"cds_start": 20214,
"cds_end": null,
"cds_length": 21204,
"cdna_start": 20406,
"cdna_end": null,
"cdna_length": 21817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.8211+302C>T",
"hgvs_p": null,
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3007,
"cds_start": -4,
"cds_end": null,
"cds_length": 9024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.6468+302C>T",
"hgvs_p": null,
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2426,
"cds_start": -4,
"cds_end": null,
"cds_length": 7281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.3073-1365C>T",
"hgvs_p": null,
"transcript": "ENST00000434685.6",
"protein_id": "ENSP00000389074.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.*416-1370G>A",
"hgvs_p": null,
"transcript": "ENST00000454583.6",
"protein_id": "ENSP00000404882.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "n.226-1365C>T",
"hgvs_p": null,
"transcript": "ENST00000498015.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "n.2657-1365C>T",
"hgvs_p": null,
"transcript": "ENST00000693000.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": 174,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24579+302C>T",
"hgvs_p": null,
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8494,
"cds_start": -4,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": 174,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24579+302C>T",
"hgvs_p": null,
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8463,
"cds_start": -4,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": 170,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24207+302C>T",
"hgvs_p": null,
"transcript": "XM_005246604.3",
"protein_id": "XP_005246661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8370,
"cds_start": -4,
"cds_end": null,
"cds_length": 25113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": 168,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24022-414C>T",
"hgvs_p": null,
"transcript": "XM_005246611.3",
"protein_id": "XP_005246668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8308,
"cds_start": -4,
"cds_end": null,
"cds_length": 24927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": 168,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24021+302C>T",
"hgvs_p": null,
"transcript": "XM_017004182.2",
"protein_id": "XP_016859671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8308,
"cds_start": -4,
"cds_end": null,
"cds_length": 24927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": 168,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24021+302C>T",
"hgvs_p": null,
"transcript": "XM_005246615.3",
"protein_id": "XP_005246672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8277,
"cds_start": -4,
"cds_end": null,
"cds_length": 24834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": 167,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23928+302C>T",
"hgvs_p": null,
"transcript": "XM_017004183.2",
"protein_id": "XP_016859672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8277,
"cds_start": -4,
"cds_end": null,
"cds_length": 24834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": 168,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24021+302C>T",
"hgvs_p": null,
"transcript": "XM_017004184.2",
"protein_id": "XP_016859673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8277,
"cds_start": -4,
"cds_end": null,
"cds_length": 24834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 173,
"intron_rank": 167,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23928+302C>T",
"hgvs_p": null,
"transcript": "XM_047444481.1",
"protein_id": "XP_047300437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8246,
"cds_start": -4,
"cds_end": null,
"cds_length": 24741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 173,
"intron_rank": 167,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23928+302C>T",
"hgvs_p": null,
"transcript": "XM_047444482.1",
"protein_id": "XP_047300438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8246,
"cds_start": -4,
"cds_end": null,
"cds_length": 24741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 172,
"intron_rank": 166,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23835+302C>T",
"hgvs_p": null,
"transcript": "XM_047444483.1",
"protein_id": "XP_047300439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8215,
"cds_start": -4,
"cds_end": null,
"cds_length": 24648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 172,
"intron_rank": 166,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23817+302C>T",
"hgvs_p": null,
"transcript": "XM_047444484.1",
"protein_id": "XP_047300440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8209,
"cds_start": -4,
"cds_end": null,
"cds_length": 24630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23743-1365C>T",
"hgvs_p": null,
"transcript": "XM_017004185.2",
"protein_id": "XP_016859674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8184,
"cds_start": -4,
"cds_end": null,
"cds_length": 24555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23724+302C>T",
"hgvs_p": null,
"transcript": "XM_047444485.1",
"protein_id": "XP_047300441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8178,
"cds_start": -4,
"cds_end": null,
"cds_length": 24537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-5546G>A",
"hgvs_p": null,
"transcript": "XR_007077529.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-3927G>A",
"hgvs_p": null,
"transcript": "XR_007077530.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-9175G>A",
"hgvs_p": null,
"transcript": "XR_007077531.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7846+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077532.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077533.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7846+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077534.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077535.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7847-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077536.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7846+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077537.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7768+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7769-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077539.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7769-5546G>A",
"hgvs_p": null,
"transcript": "XR_007077540.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7769-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077541.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7769-3927G>A",
"hgvs_p": null,
"transcript": "XR_007077542.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.7768+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077543.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.8055+10524G>A",
"hgvs_p": null,
"transcript": "XR_007077544.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.4877-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077545.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.4799-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077546.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.4775-1370G>A",
"hgvs_p": null,
"transcript": "XR_007077547.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"dbsnp": "rs754272530",
"frequency_reference_population": 0.000001423285,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142328,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07800000160932541,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.262,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": "ENST00000397345.8",
"gene_symbol": "NEB",
"hgnc_id": 7720,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.24588C>T",
"hgvs_p": "p.Tyr8196Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457745.1",
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.481-1370G>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
}