← 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: 8-132777847-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132777847&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132777847,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438309.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_016018.5",
"protein_id": "NP_057102.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1017,
"cds_start": 19,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395386.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016018.5"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000395386.7",
"protein_id": "ENSP00000378784.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1017,
"cds_start": 19,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395386.7"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000337920.8",
"protein_id": "ENSP00000338269.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 19,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337920.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.302A>T",
"hgvs_p": null,
"transcript": "ENST00000315808.14",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000315808.14"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939789.1",
"protein_id": "ENSP00000609848.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1023,
"cds_start": 19,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939789.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001438309.1",
"protein_id": "NP_001425238.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1022,
"cds_start": 19,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438309.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001438310.1",
"protein_id": "NP_001425239.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1021,
"cds_start": 19,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438310.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000905699.1",
"protein_id": "ENSP00000575758.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1021,
"cds_start": 19,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905699.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000972151.1",
"protein_id": "ENSP00000642210.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1021,
"cds_start": 19,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972151.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001438311.1",
"protein_id": "NP_001425240.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438311.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939786.1",
"protein_id": "ENSP00000609845.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939786.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939787.1",
"protein_id": "ENSP00000609846.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939787.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000972150.1",
"protein_id": "ENSP00000642209.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972150.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000622263.4",
"protein_id": "ENSP00000482945.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1017,
"cds_start": 19,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622263.4"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000972152.1",
"protein_id": "ENSP00000642211.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 995,
"cds_start": 19,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972152.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001438312.1",
"protein_id": "NP_001425241.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 993,
"cds_start": 19,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438312.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939788.1",
"protein_id": "ENSP00000609847.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 993,
"cds_start": 19,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939788.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939790.1",
"protein_id": "ENSP00000609849.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 993,
"cds_start": 19,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939790.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001438313.1",
"protein_id": "NP_001425242.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438313.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000395390.6",
"protein_id": "ENSP00000378788.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395390.6"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000905700.1",
"protein_id": "ENSP00000575759.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905700.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939785.1",
"protein_id": "ENSP00000609844.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939785.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000972149.1",
"protein_id": "ENSP00000642208.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972149.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001277196.2",
"protein_id": "NP_001264125.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 991,
"cds_start": 19,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277196.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_001362971.2",
"protein_id": "NP_001349900.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 991,
"cds_start": 19,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362971.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000220847.8",
"protein_id": "ENSP00000220847.8",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 991,
"cds_start": 19,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220847.8"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000905698.1",
"protein_id": "ENSP00000575757.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 991,
"cds_start": 19,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905698.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000939791.1",
"protein_id": "ENSP00000609850.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 928,
"cds_start": 19,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939791.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000395376.5",
"protein_id": "ENSP00000378775.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 316,
"cds_start": 19,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395376.5"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000395379.5",
"protein_id": "ENSP00000378777.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 311,
"cds_start": 19,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395379.5"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "NM_198513.2",
"protein_id": "NP_940915.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 19,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198513.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "ENST00000485595.5",
"protein_id": "ENSP00000487068.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 160,
"cds_start": 19,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485595.5"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517075.1",
"protein_id": "XP_011515377.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1023,
"cds_start": 19,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517075.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517076.1",
"protein_id": "XP_011515378.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1023,
"cds_start": 19,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517076.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517077.1",
"protein_id": "XP_011515379.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1022,
"cds_start": 19,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517077.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421816.1",
"protein_id": "XP_047277772.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1022,
"cds_start": 19,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421816.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517078.1",
"protein_id": "XP_011515380.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1019,
"cds_start": 19,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517078.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421818.1",
"protein_id": "XP_047277774.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1019,
"cds_start": 19,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421818.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517079.1",
"protein_id": "XP_011515381.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517079.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_017013509.1",
"protein_id": "XP_016868998.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013509.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421819.1",
"protein_id": "XP_047277775.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1018,
"cds_start": 19,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421819.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421821.1",
"protein_id": "XP_047277777.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1017,
"cds_start": 19,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421821.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_017013510.1",
"protein_id": "XP_016868999.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 993,
"cds_start": 19,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013510.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517081.1",
"protein_id": "XP_011515383.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517081.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421822.1",
"protein_id": "XP_047277778.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421822.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421823.1",
"protein_id": "XP_047277779.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 992,
"cds_start": 19,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421823.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_011517088.1",
"protein_id": "XP_011515390.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 578,
"cds_start": 19,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517088.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_017013516.1",
"protein_id": "XP_016869005.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 573,
"cds_start": 19,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013516.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421825.1",
"protein_id": "XP_047277781.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 548,
"cds_start": 19,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421825.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421826.1",
"protein_id": "XP_047277782.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 547,
"cds_start": 19,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421826.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_047421827.1",
"protein_id": "XP_047277783.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 547,
"cds_start": 19,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421827.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr",
"transcript": "XM_017013517.2",
"protein_id": "XP_016869006.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 19,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013517.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.-304A>T",
"hgvs_p": null,
"transcript": "ENST00000522580.5",
"protein_id": "ENSP00000428091.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522580.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.327A>T",
"hgvs_p": null,
"transcript": "ENST00000361997.9",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000361997.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.326A>T",
"hgvs_p": null,
"transcript": "ENST00000395383.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000395383.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.19A>T",
"hgvs_p": null,
"transcript": "ENST00000486199.5",
"protein_id": "ENSP00000433125.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.310A>T",
"hgvs_p": null,
"transcript": "NR_156424.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156424.2"
}
],
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"dbsnp": "rs375637162",
"frequency_reference_population": 0.0000012402131,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.8471e-7,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28335100412368774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.3178,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.183,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438309.1",
"gene_symbol": "PHF20L1",
"hgnc_id": 24280,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Asn7Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}