← 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: X-53985012-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53985012&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF8",
"hgnc_id": 20672,
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001184896.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.844,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Syndromic X-linked intellectual disability Siderius type",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14139986038208008,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_015107.3",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338154.11",
"protein_coding": true,
"protein_id": "NP_055922.1",
"strand": false,
"transcript": "NM_015107.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000338154.11",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015107.3",
"protein_coding": true,
"protein_id": "ENSP00000338868.6",
"strand": false,
"transcript": "ENST00000338154.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000357988.9",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350676.5",
"strand": false,
"transcript": "ENST00000357988.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2294,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000322659.12",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Arg765Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319473.8",
"strand": false,
"transcript": "ENST00000322659.12",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "R",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000443302.5",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.1634G>C",
"hgvs_p": "p.Arg545Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397129.1",
"strand": false,
"transcript": "ENST00000443302.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001184896.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171825.1",
"strand": false,
"transcript": "NM_001184896.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000396282.7",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379578.3",
"strand": false,
"transcript": "ENST00000396282.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5854,
"cdna_start": 2646,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2402,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930625.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2402G>C",
"hgvs_p": "p.Arg801Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600684.1",
"strand": false,
"transcript": "ENST00000930625.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930624.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600683.1",
"strand": false,
"transcript": "ENST00000930624.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874043.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544102.1",
"strand": false,
"transcript": "ENST00000874043.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6095,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930622.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600681.1",
"strand": false,
"transcript": "ENST00000930622.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2312,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930623.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2312G>C",
"hgvs_p": "p.Arg771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600682.1",
"strand": false,
"transcript": "ENST00000930623.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001441096.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2150G>C",
"hgvs_p": "p.Arg717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428025.1",
"strand": false,
"transcript": "NM_001441096.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 948,
"aa_ref": "R",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 2846,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001184897.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Arg681Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171826.1",
"strand": false,
"transcript": "NM_001184897.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 931,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001441097.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428026.1",
"strand": false,
"transcript": "NM_001441097.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5236,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000338946.11",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Arg681Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340051.7",
"strand": false,
"transcript": "ENST00000338946.11",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2294,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001184898.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Arg765Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171827.1",
"strand": false,
"transcript": "NM_001184898.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001441098.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2150G>C",
"hgvs_p": "p.Arg717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428027.1",
"strand": false,
"transcript": "NM_001441098.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005261996.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262053.1",
"strand": false,
"transcript": "XM_005261996.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011530778.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529080.1",
"strand": false,
"transcript": "XM_011530778.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5782,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047441934.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297890.1",
"strand": false,
"transcript": "XM_047441934.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5906,
"cdna_start": 3800,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005261999.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262056.1",
"strand": false,
"transcript": "XM_005261999.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4613,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047441935.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297891.1",
"strand": false,
"transcript": "XM_047441935.1",
"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": 6524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000686349.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "n.*800G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510424.1",
"strand": false,
"transcript": "ENST00000686349.1",
"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": 6476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000687764.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "n.*1787G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509967.1",
"strand": false,
"transcript": "ENST00000687764.1",
"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": 4903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000691629.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "n.1709G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000691629.1",
"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": 6524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000686349.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "n.*800G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510424.1",
"strand": false,
"transcript": "ENST00000686349.1",
"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": 6476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000687764.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "n.*1787G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509967.1",
"strand": false,
"transcript": "ENST00000687764.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782358977",
"effect": "missense_variant",
"frequency_reference_population": 0.0000036449758,
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000364498,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Syndromic X-linked intellectual disability Siderius type",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.473,
"pos": 53985012,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.131,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001184896.1"
}
]
}