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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: 6-125220147-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=125220147&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 125220147,
"ref": "T",
"alt": "C",
"effect": "start_lost",
"transcript": "NM_001003395.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "NM_003287.4",
"protein_id": "NP_003278.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 204,
"cds_start": 89,
"cds_end": null,
"cds_length": 615,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "ENST00000534000.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003287.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000534000.6",
"protein_id": "ENSP00000434142.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 204,
"cds_start": 89,
"cds_end": null,
"cds_length": 615,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "NM_003287.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534000.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000368402.9",
"protein_id": "ENSP00000357387.5",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 144,
"cds_start": 89,
"cds_end": null,
"cds_length": 435,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368402.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000368388.6",
"protein_id": "ENSP00000357373.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368388.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001003395.3",
"protein_id": "NP_001003395.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 175,
"cds_start": 2,
"cds_end": null,
"cds_length": 528,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003395.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000532429.5",
"protein_id": "ENSP00000435447.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 175,
"cds_start": 2,
"cds_end": null,
"cds_length": 528,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532429.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001292026.3",
"protein_id": "NP_001278955.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 102,
"cds_start": 2,
"cds_end": null,
"cds_length": 309,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292026.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001318907.2",
"protein_id": "NP_001305836.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 102,
"cds_start": 2,
"cds_end": null,
"cds_length": 309,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318907.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000392482.6",
"protein_id": "ENSP00000376273.2",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 102,
"cds_start": 2,
"cds_end": null,
"cds_length": 309,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392482.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000524679.1",
"protein_id": "ENSP00000432787.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 102,
"cds_start": 2,
"cds_end": null,
"cds_length": 309,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524679.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000534199.5",
"protein_id": "ENSP00000432590.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 102,
"cds_start": 2,
"cds_end": null,
"cds_length": 309,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534199.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000534368.5",
"protein_id": "ENSP00000432806.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 91,
"cds_start": 2,
"cds_end": null,
"cds_length": 276,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534368.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "XM_047419286.1",
"protein_id": "XP_047275242.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 175,
"cds_start": 2,
"cds_end": null,
"cds_length": 528,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419286.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "XM_047419287.1",
"protein_id": "XP_047275243.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 162,
"cds_start": 2,
"cds_end": null,
"cds_length": 489,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419287.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "XM_017011239.2",
"protein_id": "XP_016866728.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 115,
"cds_start": 2,
"cds_end": null,
"cds_length": 348,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011239.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "NM_001318903.2",
"protein_id": "NP_001305832.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 209,
"cds_start": 89,
"cds_end": null,
"cds_length": 630,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318903.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000304877.17",
"protein_id": "ENSP00000306285.13",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 209,
"cds_start": 89,
"cds_end": null,
"cds_length": 630,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304877.17"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "NM_001300994.3",
"protein_id": "NP_001287923.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 191,
"cds_start": 89,
"cds_end": null,
"cds_length": 576,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300994.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000527711.5",
"protein_id": "ENSP00000436953.1",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 191,
"cds_start": 89,
"cds_end": null,
"cds_length": 576,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527711.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "ENST00000528193.5",
"protein_id": "ENSP00000434743.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 166,
"cds_start": 89,
"cds_end": null,
"cds_length": 501,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528193.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "NM_001003396.3",
"protein_id": "NP_001003396.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 144,
"cds_start": 89,
"cds_end": null,
"cds_length": 435,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003396.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "NM_001003397.3",
"protein_id": "NP_001003397.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003397.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
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"hgvs_c": "c.89T>C",
"hgvs_p": "p.Met30Thr",
"transcript": "XM_047419288.1",
"protein_id": "XP_047275244.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 134,
"cds_start": 89,
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"cds_length": 405,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419288.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
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"hgvs_c": "n.192T>C",
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"transcript": "ENST00000392483.6",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000392483.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"hgvs_c": "n.414T>C",
"hgvs_p": null,
"transcript": "ENST00000532978.5",
"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": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDDC2",
"gene_hgnc_id": 21078,
"hgvs_c": "n.439A>G",
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"transcript": "ENST00000608456.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000608456.5"
}
],
"gene_symbol": "TPD52L1",
"gene_hgnc_id": 12006,
"dbsnp": "rs937546305",
"frequency_reference_population": 0.000014871805,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157365,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16674154996871948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.142,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PVS1_Supporting",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001003395.3",
"gene_symbol": "TPD52L1",
"hgnc_id": 12006,
"effects": [
"start_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000608456.5",
"gene_symbol": "HDDC2",
"hgnc_id": 21078,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.439A>G",
"hgvs_p": null
}
],
"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
}