← 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: 8-132824010-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132824010&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF20L1",
"hgnc_id": 24280,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001438309.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.0526,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028910040855407715,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016018.5",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395386.7",
"protein_coding": true,
"protein_id": "NP_057102.4",
"strand": true,
"transcript": "NM_016018.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000395386.7",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016018.5",
"protein_coding": true,
"protein_id": "ENSP00000378784.2",
"strand": true,
"transcript": "ENST00000395386.7",
"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": 2226,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000315808.14",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.1869C>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": "ENST00000315808.14",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "S",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5056,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939789.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609848.1",
"strand": true,
"transcript": "ENST00000939789.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "S",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001438309.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425238.1",
"strand": true,
"transcript": "NM_001438309.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6241,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 3066,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001438310.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Ser533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425239.1",
"strand": true,
"transcript": "NM_001438310.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 3066,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000905699.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Ser533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575758.1",
"strand": true,
"transcript": "ENST00000905699.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5329,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 3066,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000972151.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Ser533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642210.1",
"strand": true,
"transcript": "ENST00000972151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001438311.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425240.1",
"strand": true,
"transcript": "NM_001438311.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5125,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939786.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609845.1",
"strand": true,
"transcript": "ENST00000939786.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5118,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939787.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609846.1",
"strand": true,
"transcript": "ENST00000939787.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000972150.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642209.1",
"strand": true,
"transcript": "ENST00000972150.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000622263.4",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482945.1",
"strand": true,
"transcript": "ENST00000622263.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 995,
"aa_ref": "S",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2988,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000972152.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1520C>T",
"hgvs_p": "p.Ser507Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642211.1",
"strand": true,
"transcript": "ENST00000972152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 993,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6161,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2982,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438312.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425241.1",
"strand": true,
"transcript": "NM_001438312.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 993,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2982,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939788.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609847.1",
"strand": true,
"transcript": "ENST00000939788.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 993,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2982,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939790.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609849.1",
"strand": true,
"transcript": "ENST00000939790.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6154,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438313.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425242.1",
"strand": true,
"transcript": "NM_001438313.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5900,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000395390.6",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378788.2",
"strand": true,
"transcript": "ENST00000395390.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905700.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575759.1",
"strand": true,
"transcript": "ENST00000905700.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6178,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939785.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609844.1",
"strand": true,
"transcript": "ENST00000939785.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6165,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000972149.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642208.1",
"strand": true,
"transcript": "ENST00000972149.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 991,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001277196.2",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264125.1",
"strand": true,
"transcript": "NM_001277196.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 991,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362971.2",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349900.1",
"strand": true,
"transcript": "NM_001362971.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 991,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000220847.8",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000220847.8",
"strand": true,
"transcript": "ENST00000220847.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 991,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905698.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575757.1",
"strand": true,
"transcript": "ENST00000905698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 928,
"aa_ref": "S",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939791.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1319C>T",
"hgvs_p": "p.Ser440Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609850.1",
"strand": true,
"transcript": "ENST00000939791.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "S",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6251,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517075.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515377.1",
"strand": true,
"transcript": "XM_011517075.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "S",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517076.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515378.1",
"strand": true,
"transcript": "XM_011517076.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517077.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Ser533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515379.1",
"strand": true,
"transcript": "XM_011517077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421816.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Ser533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277772.1",
"strand": true,
"transcript": "XM_047421816.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517078.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515380.1",
"strand": true,
"transcript": "XM_011517078.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6235,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421818.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277774.1",
"strand": true,
"transcript": "XM_047421818.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6236,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517079.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515381.1",
"strand": true,
"transcript": "XM_011517079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017013509.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868998.1",
"strand": true,
"transcript": "XM_017013509.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "S",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6236,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421819.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ser530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277775.1",
"strand": true,
"transcript": "XM_047421819.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421821.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277777.1",
"strand": true,
"transcript": "XM_047421821.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 993,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6157,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 2982,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013510.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868999.1",
"strand": true,
"transcript": "XM_017013510.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011517081.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515383.1",
"strand": true,
"transcript": "XM_011517081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6154,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421822.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277778.1",
"strand": true,
"transcript": "XM_047421822.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421823.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277779.1",
"strand": true,
"transcript": "XM_047421823.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 712,
"aa_ref": "S",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 3758,
"cds_end": null,
"cds_length": 2139,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421824.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ser223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277780.1",
"strand": true,
"transcript": "XM_047421824.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 578,
"aa_ref": "S",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011517088.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ser534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515390.1",
"strand": true,
"transcript": "XM_011517088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "S",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017013516.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869005.1",
"strand": true,
"transcript": "XM_017013516.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421825.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1511C>T",
"hgvs_p": "p.Ser504Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277781.1",
"strand": true,
"transcript": "XM_047421825.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 547,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421826.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277782.1",
"strand": true,
"transcript": "XM_047421826.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 547,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421827.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ser503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277783.1",
"strand": true,
"transcript": "XM_047421827.1",
"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": 3229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000395383.5",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.1905C>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": "ENST00000395383.5",
"transcript_support_level": 5
},
{
"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": 3393,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460236.5",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.143C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433524.1",
"strand": true,
"transcript": "ENST00000460236.5",
"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": 7822,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000469979.6",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.7664C>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": "ENST00000469979.6",
"transcript_support_level": 2
},
{
"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": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000486199.5",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.*585C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433125.1",
"strand": true,
"transcript": "ENST00000486199.5",
"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": 554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522253.1",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.507C>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": "ENST00000522253.1",
"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": 5958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_156424.2",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.1802C>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": "NR_156424.2",
"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": 1633,
"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": "ENST00000486199.5",
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"hgvs_c": "n.*585C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433125.1",
"strand": true,
"transcript": "ENST00000486199.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs375482501",
"effect": "missense_variant",
"frequency_reference_population": 0.000016992995,
"gene_hgnc_id": 24280,
"gene_symbol": "PHF20L1",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000180877,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000660301,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.337,
"pos": 132824010,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.062,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_001438309.1"
}
]
}