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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: 14-21102705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21102705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21102705,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001146683.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "NM_001395467.1",
"protein_id": "NP_001382396.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": "ENST00000556585.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395467.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000556585.3",
"protein_id": "ENSP00000451229.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": "NM_001395467.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556585.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "NM_001146683.2",
"protein_id": "NP_001140155.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146683.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000418511.6",
"protein_id": "ENSP00000453962.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418511.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000878425.1",
"protein_id": "ENSP00000548484.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878425.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000878426.1",
"protein_id": "ENSP00000548485.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878426.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000878427.1",
"protein_id": "ENSP00000548486.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878427.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000878429.1",
"protein_id": "ENSP00000548488.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878429.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000919003.1",
"protein_id": "ENSP00000589062.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919003.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000950456.1",
"protein_id": "ENSP00000620515.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 217,
"cds_start": 460,
"cds_end": null,
"cds_length": 654,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950456.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "NM_001395464.1",
"protein_id": "NP_001382393.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395464.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000878428.1",
"protein_id": "ENSP00000548487.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878428.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000878431.1",
"protein_id": "ENSP00000548490.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878431.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000919006.1",
"protein_id": "ENSP00000589065.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919006.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000919008.1",
"protein_id": "ENSP00000589067.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919008.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000919009.1",
"protein_id": "ENSP00000589068.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 349,
"cds_end": null,
"cds_length": 543,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919009.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"transcript": "ENST00000919007.1",
"protein_id": "ENSP00000589066.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 159,
"cds_start": 286,
"cds_end": null,
"cds_length": 480,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919007.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Ala80Thr",
"transcript": "ENST00000950455.1",
"protein_id": "ENSP00000620514.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 143,
"cds_start": 238,
"cds_end": null,
"cds_length": 432,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950455.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Ala80Thr",
"transcript": "ENST00000950457.1",
"protein_id": "ENSP00000620516.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 143,
"cds_start": 238,
"cds_end": null,
"cds_length": 432,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950457.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000554329.6",
"protein_id": "ENSP00000453121.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 126,
"cds_start": 349,
"cds_end": null,
"cds_length": 381,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554329.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"transcript": "NM_001395465.1",
"protein_id": "NP_001382394.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 122,
"cds_start": 175,
"cds_end": null,
"cds_length": 369,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395465.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"transcript": "NM_001395466.1",
"protein_id": "NP_001382395.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 122,
"cds_start": 175,
"cds_end": null,
"cds_length": 369,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1447,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "n.*214G>A",
"hgvs_p": null,
"transcript": "ENST00000673682.1",
"protein_id": "ENSP00000501067.1",
"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": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "n.*11G>A",
"hgvs_p": null,
"transcript": "ENST00000553744.1",
"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": 195,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "n.*14G>A",
"hgvs_p": null,
"transcript": "ENST00000555314.1",
"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": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555314.1"
}
],
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"dbsnp": "rs760538899",
"frequency_reference_population": 0.000053498756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000571729,
"gnomad_genomes_af": 0.0000197143,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0971260666847229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.211,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001146683.2",
"gene_symbol": "TMEM253",
"hgnc_id": 32545,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001102454.2",
"gene_symbol": "ZNF219",
"hgnc_id": 13011,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-84+1806C>T",
"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
}