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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: 13-49518113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49518113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49518113,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001320727.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "NM_001040443.3",
"protein_id": "NP_001035533.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 331,
"cds_start": 420,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378319.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040443.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000378319.8",
"protein_id": "ENSP00000367570.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 331,
"cds_start": 420,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040443.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378319.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "ENST00000488958.5",
"protein_id": "ENSP00000417539.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488958.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "n.303C>T",
"hgvs_p": null,
"transcript": "ENST00000465045.5",
"protein_id": "ENSP00000418630.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000465045.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2-PHF11",
"gene_hgnc_id": null,
"hgvs_c": "c.1902C>T",
"hgvs_p": "p.Asp634Asp",
"transcript": "NM_001320727.2",
"protein_id": "NP_001307656.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 825,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320727.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000941732.1",
"protein_id": "ENSP00000611791.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 329,
"cds_start": 420,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941732.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000873990.1",
"protein_id": "ENSP00000544049.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 327,
"cds_start": 420,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873990.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000873989.1",
"protein_id": "ENSP00000544048.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 307,
"cds_start": 420,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873989.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "NM_001040444.3",
"protein_id": "NP_001035534.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040444.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "NM_001419873.1",
"protein_id": "NP_001406802.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001419873.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "NM_001419874.1",
"protein_id": "NP_001406803.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001419874.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "NM_001419875.1",
"protein_id": "NP_001406804.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001419875.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "NM_001419876.1",
"protein_id": "NP_001406805.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001419876.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "ENST00000357596.7",
"protein_id": "ENSP00000350209.3",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 292,
"cds_start": 303,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357596.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Asp94Asp",
"transcript": "ENST00000426879.5",
"protein_id": "ENSP00000394883.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 285,
"cds_start": 282,
"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": "ENST00000426879.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"transcript": "ENST00000442195.5",
"protein_id": "ENSP00000405227.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 167,
"cds_start": 303,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442195.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000496623.5",
"protein_id": "ENSP00000483500.1",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 159,
"cds_start": 420,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496623.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asp72Asp",
"transcript": "ENST00000496612.5",
"protein_id": "ENSP00000419229.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 132,
"cds_start": 216,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "c.324+4947C>T",
"hgvs_p": null,
"transcript": "ENST00000941733.1",
"protein_id": "ENSP00000611792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "n.600C>T",
"hgvs_p": null,
"transcript": "ENST00000467763.5",
"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": "pseudogene",
"feature": "ENST00000467763.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "n.287C>T",
"hgvs_p": null,
"transcript": "ENST00000476953.6",
"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": "pseudogene",
"feature": "ENST00000476953.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF11",
"gene_hgnc_id": 17024,
"hgvs_c": "n.812C>T",
"hgvs_p": null,
"transcript": "ENST00000482487.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000482487.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"transcript": "NR_135322.2",
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"biotype": "pseudogene",
"feature": "NR_135322.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 12,
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"gene_symbol": "PHF11",
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"hgvs_c": "n.1018C>T",
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"transcript": "NR_135323.3",
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"biotype": "pseudogene",
"feature": "NR_135323.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 21,
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"gene_symbol": "SETDB2-PHF11",
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"hgvs_c": "n.2866C>T",
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"biotype": "pseudogene",
"feature": "NR_135324.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "PHF11",
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"hgvs_c": "c.*8C>T",
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"transcript": "ENST00000485919.5",
"protein_id": "ENSP00000420129.1",
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"cds_length": 295,
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"biotype": "protein_coding",
"feature": "ENST00000485919.5"
},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "PHF11",
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"hgvs_c": "n.*53C>T",
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"transcript": "ENST00000481509.5",
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"biotype": "pseudogene",
"feature": "ENST00000481509.5"
}
],
"gene_symbol": "SETDB2-PHF11",
"gene_hgnc_id": null,
"dbsnp": "rs150136839",
"frequency_reference_population": 0.00029481095,
"hom_count_reference_population": 0,
"allele_count_reference_population": 474,
"gnomad_exomes_af": 0.000261058,
"gnomad_genomes_af": 0.000617633,
"gnomad_exomes_ac": 380,
"gnomad_genomes_ac": 94,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010999999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.967,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001320727.2",
"gene_symbol": "SETDB2-PHF11",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1902C>T",
"hgvs_p": "p.Asp634Asp"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001040443.3",
"gene_symbol": "PHF11",
"hgnc_id": 17024,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp"
}
],
"clinvar_disease": "PHF11-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PHF11-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}