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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-53940446-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53940446&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53940446,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001184896.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "NM_015107.3",
"protein_id": "NP_055922.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338154.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015107.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "ENST00000338154.11",
"protein_id": "ENSP00000338868.6",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015107.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338154.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "ENST00000357988.9",
"protein_id": "ENSP00000350676.5",
"transcript_support_level": 1,
"aa_start": 943,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357988.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "NM_001184896.1",
"protein_id": "NP_001171825.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184896.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "ENST00000396282.7",
"protein_id": "ENSP00000379578.3",
"transcript_support_level": 5,
"aa_start": 907,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396282.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Arg926His",
"transcript": "ENST00000930625.1",
"protein_id": "ENSP00000600684.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930625.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909His",
"transcript": "ENST00000930624.1",
"protein_id": "ENSP00000600683.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930624.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "ENST00000874043.1",
"protein_id": "ENSP00000544102.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874043.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "ENST00000930622.1",
"protein_id": "ENSP00000600681.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930622.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Arg896His",
"transcript": "ENST00000930623.1",
"protein_id": "ENSP00000600682.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930623.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2525G>A",
"hgvs_p": "p.Arg842His",
"transcript": "NM_001441096.1",
"protein_id": "NP_001428025.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 984,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441096.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806His",
"transcript": "NM_001184897.2",
"protein_id": "NP_001171826.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 948,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184897.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806His",
"transcript": "ENST00000338946.11",
"protein_id": "ENSP00000340051.7",
"transcript_support_level": 2,
"aa_start": 806,
"aa_end": null,
"aa_length": 923,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338946.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "XM_005261996.2",
"protein_id": "XP_005262053.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261996.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "XM_011530778.2",
"protein_id": "XP_011529080.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530778.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "XM_047441934.1",
"protein_id": "XP_047297890.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441934.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "XM_005261999.2",
"protein_id": "XP_005262056.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261999.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Arg907His",
"transcript": "XM_047441935.1",
"protein_id": "XP_047297891.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441935.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.502G>A",
"hgvs_p": null,
"transcript": "ENST00000470103.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000470103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.*1175G>A",
"hgvs_p": null,
"transcript": "ENST00000686349.1",
"protein_id": "ENSP00000510424.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000686349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.387G>A",
"hgvs_p": null,
"transcript": "ENST00000687283.1",
"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": "retained_intron",
"feature": "ENST00000687283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.*2162G>A",
"hgvs_p": null,
"transcript": "ENST00000687764.1",
"protein_id": "ENSP00000509967.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.2084G>A",
"hgvs_p": null,
"transcript": "ENST00000691629.1",
"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": "ENST00000691629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.*1175G>A",
"hgvs_p": null,
"transcript": "ENST00000686349.1",
"protein_id": "ENSP00000510424.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000686349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "n.*2162G>A",
"hgvs_p": null,
"transcript": "ENST00000687764.1",
"protein_id": "ENSP00000509967.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687764.1"
}
],
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"dbsnp": "rs142630105",
"frequency_reference_population": 0.0033319101,
"hom_count_reference_population": 1235,
"allele_count_reference_population": 4019,
"gnomad_exomes_af": 0.00343979,
"gnomad_genomes_af": 0.00227146,
"gnomad_exomes_ac": 3766,
"gnomad_genomes_ac": 253,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005836606025695801,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0917,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.31,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001184896.1",
"gene_symbol": "PHF8",
"hgnc_id": 20672,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His"
}
],
"clinvar_disease": "Inborn genetic diseases,Intellectual disability,Syndromic X-linked intellectual disability Siderius type,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|not provided|Syndromic X-linked intellectual disability Siderius type|Intellectual disability|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}