← 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: 2-151490409-CGA-GCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151490409&ref=CGA&alt=GCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NEB",
"hgnc_id": 7720,
"hgvs_c": "c.25363_25365delTCGinsAGC",
"hgvs_p": "p.8456",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001271208.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"hgvs_c": "n.480+3653_480+3655delCGAinsGCT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000457745.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "S",
"aa_start": 8420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25452,
"cds_end": null,
"cds_length": 25578,
"cds_start": 25258,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164507.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25258_25260delTCGinsAGC",
"hgvs_p": "p.8421",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000427231.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157979.2",
"strand": false,
"transcript": "NM_001164507.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "S",
"aa_start": 8420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25452,
"cds_end": null,
"cds_length": 25578,
"cds_start": 25258,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164508.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25258_25260delTCGinsAGC",
"hgvs_p": "p.8421",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397345.8",
"protein_coding": true,
"protein_id": "NP_001157980.2",
"strand": false,
"transcript": "NM_001164508.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "S",
"aa_start": 8420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25452,
"cds_end": null,
"cds_length": 25578,
"cds_start": 25258,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397345.8",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25258_25260delTCGinsAGC",
"hgvs_p": "p.8421",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001164508.2",
"protein_coding": true,
"protein_id": "ENSP00000380505.3",
"strand": false,
"transcript": "ENST00000397345.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "S",
"aa_start": 8420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25452,
"cds_end": null,
"cds_length": 25578,
"cds_start": 25258,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427231.7",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25258_25260delTCGinsAGC",
"hgvs_p": "p.8421",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001164507.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416578.2",
"strand": false,
"transcript": "ENST00000427231.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457745.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.480+3653_480+3655delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000457745.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8560,
"aa_ref": "S",
"aa_start": 8455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26296,
"cdna_start": 25557,
"cds_end": null,
"cds_length": 25683,
"cds_start": 25363,
"consequences": [
"synonymous_variant"
],
"exon_count": 183,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271208.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25363_25365delTCGinsAGC",
"hgvs_p": "p.8456",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258137.2",
"strand": false,
"transcript": "NM_001271208.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "S",
"aa_start": 6564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20623,
"cdna_start": 19884,
"cds_end": null,
"cds_length": 20010,
"cds_start": 19690,
"consequences": [
"synonymous_variant"
],
"exon_count": 150,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004543.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.19690_19692delTCGinsAGC",
"hgvs_p": "p.6565",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004534.3",
"strand": false,
"transcript": "NM_004543.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "S",
"aa_start": 6564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20637,
"cdna_start": 19895,
"cds_end": null,
"cds_length": 20010,
"cds_start": 19690,
"consequences": [
"synonymous_variant"
],
"exon_count": 150,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409198.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.19690_19692delTCGinsAGC",
"hgvs_p": "p.6565",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386259.1",
"strand": false,
"transcript": "ENST00000409198.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3007,
"aa_ref": "S",
"aa_start": 2902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9443,
"cdna_start": 8706,
"cds_end": null,
"cds_length": 9024,
"cds_start": 8704,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413693.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.8704_8706delTCGinsAGC",
"hgvs_p": "p.2903",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410961.1",
"strand": false,
"transcript": "ENST00000413693.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2426,
"aa_ref": "S",
"aa_start": 2321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7283,
"cdna_start": 6965,
"cds_end": null,
"cds_length": 7281,
"cds_start": 6961,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690043.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.6961_6963delTCGinsAGC",
"hgvs_p": "p.2322",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509961.1",
"strand": false,
"transcript": "ENST00000690043.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "S",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 3569,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3565,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434685.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.3565_3567delTCGinsAGC",
"hgvs_p": "p.1190",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389074.2",
"strand": false,
"transcript": "ENST00000434685.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 724,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1855,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688578.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.1855_1857delTCGinsAGC",
"hgvs_p": "p.620",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509628.1",
"strand": false,
"transcript": "ENST00000688578.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 658,
"aa_ref": "S",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1657,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397337.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.1657_1659delTCGinsAGC",
"hgvs_p": "p.554",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380498.2",
"strand": false,
"transcript": "ENST00000397337.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "S",
"aa_start": 8389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 25359,
"cds_end": null,
"cds_length": 25485,
"cds_start": 25165,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246590.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25165_25167delTCGinsAGC",
"hgvs_p": "p.8390",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246647.1",
"strand": false,
"transcript": "XM_005246590.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "S",
"aa_start": 8389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 25359,
"cds_end": null,
"cds_length": 25485,
"cds_start": 25165,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246591.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25165_25167delTCGinsAGC",
"hgvs_p": "p.8390",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246648.1",
"strand": false,
"transcript": "XM_005246591.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "S",
"aa_start": 8389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 25359,
"cds_end": null,
"cds_length": 25485,
"cds_start": 25165,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246592.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25165_25167delTCGinsAGC",
"hgvs_p": "p.8390",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246649.1",
"strand": false,
"transcript": "XM_005246592.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "S",
"aa_start": 8389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 25359,
"cds_end": null,
"cds_length": 25485,
"cds_start": 25165,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246593.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25165_25167delTCGinsAGC",
"hgvs_p": "p.8390",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246650.1",
"strand": false,
"transcript": "XM_005246593.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "S",
"aa_start": 8389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 25359,
"cds_end": null,
"cds_length": 25485,
"cds_start": 25165,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246594.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25165_25167delTCGinsAGC",
"hgvs_p": "p.8390",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246651.1",
"strand": false,
"transcript": "XM_005246594.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8488,
"aa_ref": "S",
"aa_start": 8383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26080,
"cdna_start": 25341,
"cds_end": null,
"cds_length": 25467,
"cds_start": 25147,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004177.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25147_25149delTCGinsAGC",
"hgvs_p": "p.8384",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859666.1",
"strand": false,
"transcript": "XM_017004177.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "S",
"aa_start": 8358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 25266,
"cds_end": null,
"cds_length": 25392,
"cds_start": 25072,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246596.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25072_25074delTCGinsAGC",
"hgvs_p": "p.8359",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246653.1",
"strand": false,
"transcript": "XM_005246596.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "S",
"aa_start": 8358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 25266,
"cds_end": null,
"cds_length": 25392,
"cds_start": 25072,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246597.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25072_25074delTCGinsAGC",
"hgvs_p": "p.8359",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246654.1",
"strand": false,
"transcript": "XM_005246597.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "S",
"aa_start": 8358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 25266,
"cds_end": null,
"cds_length": 25392,
"cds_start": 25072,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246598.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25072_25074delTCGinsAGC",
"hgvs_p": "p.8359",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246655.1",
"strand": false,
"transcript": "XM_005246598.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "S",
"aa_start": 8358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 25266,
"cds_end": null,
"cds_length": 25392,
"cds_start": 25072,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004178.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25072_25074delTCGinsAGC",
"hgvs_p": "p.8359",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859667.1",
"strand": false,
"transcript": "XM_017004178.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8457,
"aa_ref": "S",
"aa_start": 8352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25987,
"cdna_start": 25248,
"cds_end": null,
"cds_length": 25374,
"cds_start": 25054,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444477.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25054_25056delTCGinsAGC",
"hgvs_p": "p.8353",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300433.1",
"strand": false,
"transcript": "XM_047444477.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8432,
"aa_ref": "S",
"aa_start": 8327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25912,
"cdna_start": 25173,
"cds_end": null,
"cds_length": 25299,
"cds_start": 24979,
"consequences": [
"synonymous_variant"
],
"exon_count": 179,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246599.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24979_24981delTCGinsAGC",
"hgvs_p": "p.8328",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246656.1",
"strand": false,
"transcript": "XM_005246599.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8401,
"aa_ref": "S",
"aa_start": 8296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25819,
"cdna_start": 25080,
"cds_end": null,
"cds_length": 25206,
"cds_start": 24886,
"consequences": [
"synonymous_variant"
],
"exon_count": 178,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246601.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24886_24888delTCGinsAGC",
"hgvs_p": "p.8297",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246658.1",
"strand": false,
"transcript": "XM_005246601.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8401,
"aa_ref": "S",
"aa_start": 8296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25819,
"cdna_start": 25080,
"cds_end": null,
"cds_length": 25206,
"cds_start": 24886,
"consequences": [
"synonymous_variant"
],
"exon_count": 178,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246602.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24886_24888delTCGinsAGC",
"hgvs_p": "p.8297",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246659.1",
"strand": false,
"transcript": "XM_005246602.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8401,
"aa_ref": "S",
"aa_start": 8296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25819,
"cdna_start": 25080,
"cds_end": null,
"cds_length": 25206,
"cds_start": 24886,
"consequences": [
"synonymous_variant"
],
"exon_count": 178,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444478.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24886_24888delTCGinsAGC",
"hgvs_p": "p.8297",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300434.1",
"strand": false,
"transcript": "XM_047444478.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246604.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246661.1",
"strand": false,
"transcript": "XM_005246604.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246606.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246663.1",
"strand": false,
"transcript": "XM_005246606.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006712541.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712604.1",
"strand": false,
"transcript": "XM_006712541.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006712542.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712605.1",
"strand": false,
"transcript": "XM_006712542.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004179.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859668.1",
"strand": false,
"transcript": "XM_017004179.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8370,
"aa_ref": "S",
"aa_start": 8265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25726,
"cdna_start": 24987,
"cds_end": null,
"cds_length": 25113,
"cds_start": 24793,
"consequences": [
"synonymous_variant"
],
"exon_count": 177,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004180.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24793_24795delTCGinsAGC",
"hgvs_p": "p.8266",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859669.1",
"strand": false,
"transcript": "XM_017004180.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8339,
"aa_ref": "S",
"aa_start": 8234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25633,
"cdna_start": 24894,
"cds_end": null,
"cds_length": 25020,
"cds_start": 24700,
"consequences": [
"synonymous_variant"
],
"exon_count": 176,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246608.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24700_24702delTCGinsAGC",
"hgvs_p": "p.8235",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246665.1",
"strand": false,
"transcript": "XM_005246608.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8339,
"aa_ref": "S",
"aa_start": 8234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25633,
"cdna_start": 24894,
"cds_end": null,
"cds_length": 25020,
"cds_start": 24700,
"consequences": [
"synonymous_variant"
],
"exon_count": 176,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004181.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24700_24702delTCGinsAGC",
"hgvs_p": "p.8235",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859670.1",
"strand": false,
"transcript": "XM_017004181.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8308,
"aa_ref": "S",
"aa_start": 8203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25540,
"cdna_start": 24801,
"cds_end": null,
"cds_length": 24927,
"cds_start": 24607,
"consequences": [
"synonymous_variant"
],
"exon_count": 175,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246610.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24607_24609delTCGinsAGC",
"hgvs_p": "p.8204",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246667.1",
"strand": false,
"transcript": "XM_005246610.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8308,
"aa_ref": "S",
"aa_start": 8203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25540,
"cdna_start": 24801,
"cds_end": null,
"cds_length": 24927,
"cds_start": 24607,
"consequences": [
"synonymous_variant"
],
"exon_count": 175,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246611.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24607_24609delTCGinsAGC",
"hgvs_p": "p.8204",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246668.1",
"strand": false,
"transcript": "XM_005246611.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8308,
"aa_ref": "S",
"aa_start": 8203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25540,
"cdna_start": 24801,
"cds_end": null,
"cds_length": 24927,
"cds_start": 24607,
"consequences": [
"synonymous_variant"
],
"exon_count": 175,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004182.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24607_24609delTCGinsAGC",
"hgvs_p": "p.8204",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859671.1",
"strand": false,
"transcript": "XM_017004182.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8308,
"aa_ref": "S",
"aa_start": 8203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25540,
"cdna_start": 24801,
"cds_end": null,
"cds_length": 24927,
"cds_start": 24607,
"consequences": [
"synonymous_variant"
],
"exon_count": 175,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444479.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24607_24609delTCGinsAGC",
"hgvs_p": "p.8204",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300435.1",
"strand": false,
"transcript": "XM_047444479.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8282,
"aa_ref": "S",
"aa_start": 8177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25462,
"cdna_start": 24723,
"cds_end": null,
"cds_length": 24849,
"cds_start": 24529,
"consequences": [
"synonymous_variant"
],
"exon_count": 178,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246612.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24529_24531delTCGinsAGC",
"hgvs_p": "p.8178",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246669.1",
"strand": false,
"transcript": "XM_005246612.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8282,
"aa_ref": "S",
"aa_start": 8177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25462,
"cdna_start": 24723,
"cds_end": null,
"cds_length": 24849,
"cds_start": 24529,
"consequences": [
"synonymous_variant"
],
"exon_count": 179,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246613.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24529_24531delTCGinsAGC",
"hgvs_p": "p.8178",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246670.1",
"strand": false,
"transcript": "XM_005246613.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8277,
"aa_ref": "S",
"aa_start": 8172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25447,
"cdna_start": 24708,
"cds_end": null,
"cds_length": 24834,
"cds_start": 24514,
"consequences": [
"synonymous_variant"
],
"exon_count": 174,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246615.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24514_24516delTCGinsAGC",
"hgvs_p": "p.8173",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246672.1",
"strand": false,
"transcript": "XM_005246615.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8277,
"aa_ref": "S",
"aa_start": 8172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25447,
"cdna_start": 24708,
"cds_end": null,
"cds_length": 24834,
"cds_start": 24514,
"consequences": [
"synonymous_variant"
],
"exon_count": 174,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511225.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24514_24516delTCGinsAGC",
"hgvs_p": "p.8173",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509527.1",
"strand": false,
"transcript": "XM_011511225.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8277,
"aa_ref": "S",
"aa_start": 8172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25447,
"cdna_start": 24708,
"cds_end": null,
"cds_length": 24834,
"cds_start": 24514,
"consequences": [
"synonymous_variant"
],
"exon_count": 174,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004183.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24514_24516delTCGinsAGC",
"hgvs_p": "p.8173",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859672.1",
"strand": false,
"transcript": "XM_017004183.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8277,
"aa_ref": "S",
"aa_start": 8172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25447,
"cdna_start": 24708,
"cds_end": null,
"cds_length": 24834,
"cds_start": 24514,
"consequences": [
"synonymous_variant"
],
"exon_count": 174,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004184.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24514_24516delTCGinsAGC",
"hgvs_p": "p.8173",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859673.1",
"strand": false,
"transcript": "XM_017004184.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8246,
"aa_ref": "S",
"aa_start": 8141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25354,
"cdna_start": 24615,
"cds_end": null,
"cds_length": 24741,
"cds_start": 24421,
"consequences": [
"synonymous_variant"
],
"exon_count": 173,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444481.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24421_24423delTCGinsAGC",
"hgvs_p": "p.8142",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300437.1",
"strand": false,
"transcript": "XM_047444481.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8246,
"aa_ref": "S",
"aa_start": 8141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25354,
"cdna_start": 24615,
"cds_end": null,
"cds_length": 24741,
"cds_start": 24421,
"consequences": [
"synonymous_variant"
],
"exon_count": 173,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444482.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24421_24423delTCGinsAGC",
"hgvs_p": "p.8142",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300438.1",
"strand": false,
"transcript": "XM_047444482.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8215,
"aa_ref": "S",
"aa_start": 8110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25261,
"cdna_start": 24522,
"cds_end": null,
"cds_length": 24648,
"cds_start": 24328,
"consequences": [
"synonymous_variant"
],
"exon_count": 172,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444483.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24328_24330delTCGinsAGC",
"hgvs_p": "p.8111",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300439.1",
"strand": false,
"transcript": "XM_047444483.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8209,
"aa_ref": "S",
"aa_start": 8104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25243,
"cdna_start": 24504,
"cds_end": null,
"cds_length": 24630,
"cds_start": 24310,
"consequences": [
"synonymous_variant"
],
"exon_count": 172,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444484.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24310_24312delTCGinsAGC",
"hgvs_p": "p.8105",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300440.1",
"strand": false,
"transcript": "XM_047444484.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8184,
"aa_ref": "S",
"aa_start": 8079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25168,
"cdna_start": 24429,
"cds_end": null,
"cds_length": 24555,
"cds_start": 24235,
"consequences": [
"synonymous_variant"
],
"exon_count": 171,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004185.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24235_24237delTCGinsAGC",
"hgvs_p": "p.8080",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859674.1",
"strand": false,
"transcript": "XM_017004185.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 8178,
"aa_ref": "S",
"aa_start": 8073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25150,
"cdna_start": 24411,
"cds_end": null,
"cds_length": 24537,
"cds_start": 24217,
"consequences": [
"synonymous_variant"
],
"exon_count": 171,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444485.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24217_24219delTCGinsAGC",
"hgvs_p": "p.8074",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300441.1",
"strand": false,
"transcript": "XM_047444485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 7796,
"aa_ref": "S",
"aa_start": 7691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24004,
"cdna_start": 23265,
"cds_end": null,
"cds_length": 23391,
"cds_start": 23071,
"consequences": [
"synonymous_variant"
],
"exon_count": 171,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511226.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23071_23073delTCGinsAGC",
"hgvs_p": "p.7692",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509528.1",
"strand": false,
"transcript": "XM_011511226.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 7553,
"aa_ref": "S",
"aa_start": 7448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23275,
"cdna_start": 22536,
"cds_end": null,
"cds_length": 22662,
"cds_start": 22342,
"consequences": [
"synonymous_variant"
],
"exon_count": 166,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246617.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.22342_22344delTCGinsAGC",
"hgvs_p": "p.7449",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246674.1",
"strand": false,
"transcript": "XM_005246617.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 7067,
"aa_ref": "S",
"aa_start": 6962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21817,
"cdna_start": 21078,
"cds_end": null,
"cds_length": 21204,
"cds_start": 20884,
"consequences": [
"synonymous_variant"
],
"exon_count": 158,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511227.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.20884_20886delTCGinsAGC",
"hgvs_p": "p.6963",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509529.1",
"strand": false,
"transcript": "XM_011511227.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000689642.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "n.1077_1079delTCGinsAGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000689642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000693000.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "n.3149_3151delTCGinsAGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000693000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454583.6",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.*416-4820_*416-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404882.2",
"strand": true,
"transcript": "ENST00000454583.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8975,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077529.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077529.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077530.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077530.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077531.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077531.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077532.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077532.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10692,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077533.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7847-4820_7847-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077534.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077534.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 14114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077535.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7847-4820_7847-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077535.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077536.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7847-4820_7847-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077536.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8325,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077537.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7846+7074_7846+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077537.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077538.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7768+7074_7768+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8995,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077539.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7769-4820_7769-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077539.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8897,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077540.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7768+7074_7768+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077540.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077541.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7769-4820_7769-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10516,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077542.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7768+7074_7768+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077543.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.7768+7074_7768+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8558,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077544.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.8055+7074_8055+7076delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077545.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.4877-4820_4877-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077546.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.4799-4820_4799-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007077547.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.4775-4820_4775-4818delCGAinsGCT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007077547.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.622,
"pos": 151490409,
"ref": "CGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001271208.2"
}
]
}