← 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: 17-2676606-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2676606&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "PAFAH1B1",
"hgnc_id": 8574,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_000430.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_score": -15,
"allele_count_reference_population": 214,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000430.4",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397195.10",
"protein_coding": true,
"protein_id": "NP_000421.1",
"strand": true,
"transcript": "NM_000430.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397195.10",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000430.4",
"protein_coding": true,
"protein_id": "ENSP00000380378.4",
"strand": true,
"transcript": "ENST00000397195.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572915.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.676+2510C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000572915.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1056,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674608.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501976.1",
"strand": true,
"transcript": "ENST00000674608.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1056,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863852.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533911.1",
"strand": true,
"transcript": "ENST00000863852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000576586.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461087.2",
"strand": true,
"transcript": "ENST00000576586.6",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675202.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502843.1",
"strand": true,
"transcript": "ENST00000675202.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675331.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502031.1",
"strand": true,
"transcript": "ENST00000675331.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000675390.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501969.1",
"strand": true,
"transcript": "ENST00000675390.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676098.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502735.1",
"strand": true,
"transcript": "ENST00000676098.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5297,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000676188.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502577.1",
"strand": true,
"transcript": "ENST00000676188.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713986.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519277.1",
"strand": true,
"transcript": "ENST00000713986.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713987.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519278.1",
"strand": true,
"transcript": "ENST00000713987.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863847.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533906.1",
"strand": true,
"transcript": "ENST00000863847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863848.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533907.1",
"strand": true,
"transcript": "ENST00000863848.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863849.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533908.1",
"strand": true,
"transcript": "ENST00000863849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863850.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533909.1",
"strand": true,
"transcript": "ENST00000863850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863851.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533910.1",
"strand": true,
"transcript": "ENST00000863851.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863853.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533912.1",
"strand": true,
"transcript": "ENST00000863853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863854.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533913.1",
"strand": true,
"transcript": "ENST00000863854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934916.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604975.1",
"strand": true,
"transcript": "ENST00000934916.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934917.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604976.1",
"strand": true,
"transcript": "ENST00000934917.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934918.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604977.1",
"strand": true,
"transcript": "ENST00000934918.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934919.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604978.1",
"strand": true,
"transcript": "ENST00000934919.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971580.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641639.1",
"strand": true,
"transcript": "ENST00000971580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 346,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1041,
"cds_start": 810,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713983.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Leu270Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519274.1",
"strand": true,
"transcript": "ENST00000713983.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000570400.2",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460258.2",
"strand": true,
"transcript": "ENST00000570400.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5127,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000674717.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501931.1",
"strand": true,
"transcript": "ENST00000674717.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5204,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000676353.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502737.1",
"strand": true,
"transcript": "ENST00000676353.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713690.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518994.1",
"strand": true,
"transcript": "ENST00000713690.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713984.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519275.1",
"strand": true,
"transcript": "ENST00000713984.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1056,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011523901.3",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522203.1",
"strand": true,
"transcript": "XM_011523901.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1056,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011523902.4",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522204.1",
"strand": true,
"transcript": "XM_011523902.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5413,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1056,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011523903.3",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522205.1",
"strand": true,
"transcript": "XM_011523903.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017024701.2",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880190.1",
"strand": true,
"transcript": "XM_017024701.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436162.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292118.1",
"strand": true,
"transcript": "XM_047436162.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5442,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1002,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436163.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Leu334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292119.1",
"strand": true,
"transcript": "XM_047436163.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1038,
"cds_start": 807,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047436164.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Leu269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292120.1",
"strand": true,
"transcript": "XM_047436164.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5457,
"cdna_start": null,
"cds_end": null,
"cds_length": 1131,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574468.2",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.900+2318C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460591.2",
"strand": true,
"transcript": "ENST00000574468.2",
"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": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397193.7",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.810C>T",
"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": "ENST00000397193.7",
"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": 6122,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000571495.2",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.2087C>T",
"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": "ENST00000571495.2",
"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": 662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000574816.5",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.323C>T",
"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": "ENST00000574816.5",
"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": 762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675084.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.256C>T",
"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": "ENST00000675084.1",
"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": 3544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675385.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.616C>T",
"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": "ENST00000675385.1",
"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": 8092,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675574.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.4057C>T",
"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": "ENST00000675574.1",
"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": 1563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000675621.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.1002C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502117.1",
"strand": true,
"transcript": "ENST00000675621.1",
"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": 5384,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675764.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*956C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502242.1",
"strand": true,
"transcript": "ENST00000675764.1",
"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": 4956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676077.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*320C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502507.1",
"strand": true,
"transcript": "ENST00000676077.1",
"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": 5343,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713668.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.1002C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518970.1",
"strand": true,
"transcript": "ENST00000713668.1",
"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": 1931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713688.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*484C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518992.1",
"strand": true,
"transcript": "ENST00000713688.1",
"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": 2127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713689.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518993.1",
"strand": true,
"transcript": "ENST00000713689.1",
"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": 5384,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675764.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*956C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502242.1",
"strand": true,
"transcript": "ENST00000675764.1",
"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": 4956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676077.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*320C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502507.1",
"strand": true,
"transcript": "ENST00000676077.1",
"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": 1931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713688.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*484C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518992.1",
"strand": true,
"transcript": "ENST00000713688.1",
"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": 2127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713689.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518993.1",
"strand": true,
"transcript": "ENST00000713689.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.00023003468244787,
"dbsnp": "rs199648962",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.00013664953,
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"gnomad_exomes_ac": 204,
"gnomad_exomes_af": 0.000144282,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000657255,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.052,
"pos": 2676606,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.0860000029206276,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_000430.4"
}
]
}