← 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: 13-50945445-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50945445&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PS3",
"PP5_Very_Strong",
"BP4",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNASEH2B",
"hgnc_id": 25671,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 12,
"score": 10,
"transcript": "NM_024570.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP5_Very_Strong,BP4,BS2_Supporting",
"acmg_score": 10,
"allele_count_reference_population": 3252,
"alphamissense_prediction": null,
"alphamissense_score": 0.1162,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "13",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Abnormality of the nervous system,Aicardi Goutieres syndrome,Aicardi-Goutieres syndrome 2,Autism spectrum disorder,Cerebral palsy,Hereditary spastic paraplegia,Inborn genetic diseases,RNASEH2B-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:37 LP:9",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05185237526893616,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 815,
"cds_end": null,
"cds_length": 939,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024570.4",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336617.8",
"protein_coding": true,
"protein_id": "NP_078846.2",
"strand": true,
"transcript": "NM_024570.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 815,
"cds_end": null,
"cds_length": 939,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336617.8",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024570.4",
"protein_coding": true,
"protein_id": "ENSP00000337623.2",
"strand": true,
"transcript": "ENST00000336617.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1068,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646960.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496481.1",
"strand": true,
"transcript": "ENST00000646960.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 324,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 975,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643159.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495587.1",
"strand": true,
"transcript": "ENST00000643159.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 602,
"cds_end": null,
"cds_length": 960,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642721.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495650.1",
"strand": true,
"transcript": "ENST00000642721.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 582,
"cds_end": null,
"cds_length": 960,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713971.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Ala184Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519263.1",
"strand": true,
"transcript": "ENST00000713971.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 838,
"cds_end": null,
"cds_length": 936,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951840.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621899.1",
"strand": true,
"transcript": "ENST00000951840.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 832,
"cds_end": null,
"cds_length": 936,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951841.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621900.1",
"strand": true,
"transcript": "ENST00000951841.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 309,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 829,
"cds_end": null,
"cds_length": 930,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645188.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Ala174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496224.1",
"strand": true,
"transcript": "ENST00000645188.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 309,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": 536,
"cds_end": null,
"cds_length": 930,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913790.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Ala174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583849.1",
"strand": true,
"transcript": "ENST00000913790.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 523,
"cds_end": null,
"cds_length": 927,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951842.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Ala173Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621901.1",
"strand": true,
"transcript": "ENST00000951842.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 903,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643774.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495482.1",
"strand": true,
"transcript": "ENST00000643774.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 614,
"cds_end": null,
"cds_length": 882,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643682.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493655.1",
"strand": true,
"transcript": "ENST00000643682.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 599,
"cds_end": null,
"cds_length": 870,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000616907.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482701.2",
"strand": true,
"transcript": "ENST00000616907.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 688,
"cds_end": null,
"cds_length": 870,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645955.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495755.1",
"strand": true,
"transcript": "ENST00000645955.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 749,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000611510.5",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481236.3",
"strand": true,
"transcript": "ENST00000611510.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 952,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637648.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490077.3",
"strand": true,
"transcript": "ENST00000637648.3",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 3323,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646709.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495278.1",
"strand": true,
"transcript": "ENST00000646709.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 649,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713976.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519267.1",
"strand": true,
"transcript": "ENST00000713976.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 273,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 419,
"cds_end": null,
"cds_length": 822,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642995.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493499.1",
"strand": true,
"transcript": "ENST00000642995.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 272,
"aa_ref": "A",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 819,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645370.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494019.2",
"strand": true,
"transcript": "ENST00000645370.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 810,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643215.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495031.2",
"strand": true,
"transcript": "ENST00000643215.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 815,
"cds_end": null,
"cds_length": 801,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001411023.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397952.1",
"strand": true,
"transcript": "NM_001411023.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 553,
"cds_end": null,
"cds_length": 801,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645990.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496571.1",
"strand": true,
"transcript": "ENST00000645990.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 898,
"cds_end": null,
"cds_length": 792,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000645618.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495429.1",
"strand": true,
"transcript": "ENST00000645618.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 257,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 928,
"cds_end": null,
"cds_length": 774,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142279.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135751.1",
"strand": true,
"transcript": "NM_001142279.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 257,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 859,
"cds_end": null,
"cds_length": 774,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000422660.6",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389877.1",
"strand": true,
"transcript": "ENST00000422660.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 254,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 829,
"cds_end": null,
"cds_length": 765,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646731.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Ala174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493828.1",
"strand": true,
"transcript": "ENST00000646731.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 391,
"cds_end": null,
"cds_length": 750,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913788.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583847.1",
"strand": true,
"transcript": "ENST00000913788.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 885,
"cds_end": null,
"cds_length": 684,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636524.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489723.3",
"strand": true,
"transcript": "ENST00000636524.3",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 672,
"cds_end": null,
"cds_length": 684,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642454.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494221.1",
"strand": true,
"transcript": "ENST00000642454.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 541,
"cds_end": null,
"cds_length": 684,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647387.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495487.1",
"strand": true,
"transcript": "ENST00000647387.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 677,
"cds_end": null,
"cds_length": 684,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713973.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519265.1",
"strand": true,
"transcript": "ENST00000713973.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 212,
"aa_ref": "A",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": 248,
"cds_end": null,
"cds_length": 639,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913789.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Ala77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583848.1",
"strand": true,
"transcript": "ENST00000913789.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 188,
"aa_ref": "A",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": 226,
"cds_end": null,
"cds_length": 567,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000713969.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519261.1",
"strand": true,
"transcript": "ENST00000713969.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 162,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 492,
"cdna_start": 177,
"cds_end": null,
"cds_length": 490,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000643405.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493777.1",
"strand": true,
"transcript": "ENST00000643405.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 103,
"aa_ref": "A",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 508,
"cdna_start": 42,
"cds_end": null,
"cds_length": 312,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000643529.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Ala14Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495920.1",
"strand": true,
"transcript": "ENST00000643529.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 657,
"cds_end": null,
"cds_length": 921,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006719867.5",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719930.1",
"strand": true,
"transcript": "XM_006719867.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 928,
"cds_end": null,
"cds_length": 855,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430613.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286569.1",
"strand": true,
"transcript": "XM_047430613.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 580,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430614.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286570.1",
"strand": true,
"transcript": "XM_047430614.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 654,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430615.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286571.1",
"strand": true,
"transcript": "XM_047430615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 487,
"cds_end": null,
"cds_length": 849,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430616.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286572.1",
"strand": true,
"transcript": "XM_047430616.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 261,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5099,
"cdna_start": 928,
"cds_end": null,
"cds_length": 786,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011535230.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533532.1",
"strand": true,
"transcript": "XM_011535230.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 259,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 928,
"cds_end": null,
"cds_length": 780,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011535231.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533533.1",
"strand": true,
"transcript": "XM_011535231.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9082,
"cdna_start": 928,
"cds_end": null,
"cds_length": 777,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430617.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286573.1",
"strand": true,
"transcript": "XM_047430617.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 176,
"aa_ref": "A",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": 297,
"cds_end": null,
"cds_length": 531,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047430618.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286574.1",
"strand": true,
"transcript": "XM_047430618.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": 519,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951843.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.322-8460G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621902.1",
"strand": true,
"transcript": "ENST00000951843.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 621,
"cdna_start": null,
"cds_end": null,
"cds_length": 387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644034.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.65-2542G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495456.1",
"strand": true,
"transcript": "ENST00000644034.1",
"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": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000459681.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.212G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000459681.3",
"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": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000495244.7",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.540G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495244.7",
"transcript_support_level": 5
},
{
"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": 3328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000613449.4",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.2591G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000613449.4",
"transcript_support_level": 2
},
{
"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": 409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000621641.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.117G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000621641.1",
"transcript_support_level": 3
},
{
"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": 1375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642207.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*78G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496227.2",
"strand": true,
"transcript": "ENST00000642207.2",
"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": 1732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644183.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495657.1",
"strand": true,
"transcript": "ENST00000644183.1",
"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": 1428,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644297.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*387G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495519.1",
"strand": true,
"transcript": "ENST00000644297.1",
"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": 1885,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644420.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.555G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000644420.1",
"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": 1166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644425.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.478G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495302.1",
"strand": true,
"transcript": "ENST00000644425.1",
"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": 1044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644518.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495793.1",
"strand": true,
"transcript": "ENST00000644518.1",
"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": 2196,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000645333.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.461G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645333.1",
"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": 1254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645712.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.553G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645712.1",
"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": 1441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646092.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496293.1",
"strand": true,
"transcript": "ENST00000646092.1",
"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": 7282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646279.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.826G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646279.1",
"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": 630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646339.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*89G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495773.1",
"strand": true,
"transcript": "ENST00000646339.1",
"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": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646964.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.1168G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646964.1",
"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": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713853.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*215G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519158.1",
"strand": true,
"transcript": "ENST00000713853.1",
"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": 2923,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713967.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.2238G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000713967.1",
"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": 1542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713968.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*224G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519260.1",
"strand": true,
"transcript": "ENST00000713968.1",
"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": 924,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713970.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519262.1",
"strand": true,
"transcript": "ENST00000713970.1",
"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": 1003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713972.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519264.1",
"strand": true,
"transcript": "ENST00000713972.1",
"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": 1732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713974.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519266.1",
"strand": true,
"transcript": "ENST00000713974.1",
"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": 1375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713975.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.866G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000713975.1",
"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": 1288,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714507.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519756.1",
"strand": true,
"transcript": "ENST00000714507.1",
"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": 1375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642207.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*78G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496227.2",
"strand": true,
"transcript": "ENST00000642207.2",
"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": 1732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644183.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495657.1",
"strand": true,
"transcript": "ENST00000644183.1",
"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": 1428,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644297.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*387G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495519.1",
"strand": true,
"transcript": "ENST00000644297.1",
"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": 1044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644518.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495793.1",
"strand": true,
"transcript": "ENST00000644518.1",
"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": 630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646339.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*89G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495773.1",
"strand": true,
"transcript": "ENST00000646339.1",
"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": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713853.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*215G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519158.1",
"strand": true,
"transcript": "ENST00000713853.1",
"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": 1542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713968.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*224G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519260.1",
"strand": true,
"transcript": "ENST00000713968.1",
"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": 924,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713970.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519262.1",
"strand": true,
"transcript": "ENST00000713970.1",
"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": 1003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713972.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519264.1",
"strand": true,
"transcript": "ENST00000713972.1",
"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": 1732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713974.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519266.1",
"strand": true,
"transcript": "ENST00000713974.1",
"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": 1288,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714507.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519756.1",
"strand": true,
"transcript": "ENST00000714507.1",
"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": 2015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645201.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "n.-75G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645201.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs75184679",
"effect": "missense_variant",
"frequency_reference_population": 0.002016424,
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"gnomad_exomes_ac": 3031,
"gnomad_exomes_af": 0.00207536,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_ac": 221,
"gnomad_genomes_af": 0.0014512,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Aicardi-Goutieres syndrome 2|not provided|Aicardi Goutieres syndrome|Cerebral palsy|Abnormality of the nervous system|Autism spectrum disorder|RNASEH2B-related disorder|Inborn genetic diseases|Hereditary spastic paraplegia",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.693,
"pos": 50945445,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.614,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024570.4"
}
]
}