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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: 10-17149110-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=17149110&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 17149110,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004412.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "NM_004412.7",
"protein_id": "NP_004403.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 391,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377799.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004412.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000377799.8",
"protein_id": "ENSP00000367030.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 391,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004412.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377799.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "n.*1126G>A",
"hgvs_p": null,
"transcript": "ENST00000354631.7",
"protein_id": "ENSP00000346652.3",
"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": "ENST00000354631.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "n.*1126G>A",
"hgvs_p": null,
"transcript": "ENST00000354631.7",
"protein_id": "ENSP00000346652.3",
"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": "ENST00000354631.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "ENST00000929578.1",
"protein_id": "ENSP00000599637.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 398,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929578.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362His",
"transcript": "NM_001351219.2",
"protein_id": "NP_001338148.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 384,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351219.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362His",
"transcript": "ENST00000852532.1",
"protein_id": "ENSP00000522591.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 384,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852532.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "ENST00000852531.1",
"protein_id": "ENSP00000522590.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852531.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342His",
"transcript": "ENST00000929579.1",
"protein_id": "ENSP00000599638.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 364,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929579.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000949131.1",
"protein_id": "ENSP00000619190.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 363,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949131.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000852533.1",
"protein_id": "ENSP00000522592.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 362,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000949132.1",
"protein_id": "ENSP00000619191.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 341,
"cds_start": 956,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949132.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001351221.2",
"protein_id": "NP_001338150.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 338,
"cds_start": 947,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351221.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000929575.1",
"protein_id": "ENSP00000599634.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 338,
"cds_start": 947,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929575.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304His",
"transcript": "ENST00000929577.1",
"protein_id": "ENSP00000599636.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 326,
"cds_start": 911,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929577.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_001321007.2",
"protein_id": "NP_001307936.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 320,
"cds_start": 893,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321007.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"transcript": "ENST00000949130.1",
"protein_id": "ENSP00000619189.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 317,
"cds_start": 884,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949130.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"transcript": "NM_001321006.2",
"protein_id": "NP_001307935.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 310,
"cds_start": 863,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321006.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246His",
"transcript": "ENST00000929576.1",
"protein_id": "ENSP00000599635.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 268,
"cds_start": 737,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929576.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000949129.1",
"protein_id": "ENSP00000619188.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 179,
"cds_start": 470,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949129.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1075+4397G>A",
"hgvs_p": null,
"transcript": "XM_005252374.5",
"protein_id": "XP_005252431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.1009+4397G>A",
"hgvs_p": null,
"transcript": "XM_047424695.1",
"protein_id": "XP_047280651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "c.937+4397G>A",
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"transcript": "XM_047424697.1",
"protein_id": "XP_047280653.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "n.*771G>A",
"hgvs_p": null,
"transcript": "ENST00000495022.5",
"protein_id": "ENSP00000417594.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000495022.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"hgvs_c": "n.*771G>A",
"hgvs_p": null,
"transcript": "ENST00000495022.5",
"protein_id": "ENSP00000417594.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000495022.5"
}
],
"gene_symbol": "TRDMT1",
"gene_hgnc_id": 2977,
"dbsnp": "rs200539562",
"frequency_reference_population": 0.000063931315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 103,
"gnomad_exomes_af": 0.0000637407,
"gnomad_genomes_af": 0.0000657601,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5326248407363892,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
"alphamissense_score": 0.1155,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.556,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_004412.7",
"gene_symbol": "TRDMT1",
"hgnc_id": 2977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His"
}
],
"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
}