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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: 2-161231196-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161231196&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161231196,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392749.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "NM_001199135.3",
"protein_id": "NP_001186064.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 425,
"cds_start": 746,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000392749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "ENST00000392749.7",
"protein_id": "ENSP00000376505.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 425,
"cds_start": 746,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001199135.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "ENST00000259075.6",
"protein_id": "ENSP00000259075.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 425,
"cds_start": 746,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "NM_004180.3",
"protein_id": "NP_004171.2",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 425,
"cds_start": 746,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "ENST00000405852.5",
"protein_id": "ENSP00000385487.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 408,
"cds_start": 746,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Thr140Ile",
"transcript": "ENST00000437623.1",
"protein_id": "ENSP00000412556.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 275,
"cds_start": 419,
"cds_end": null,
"cds_length": 828,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Thr4Ile",
"transcript": "ENST00000439442.1",
"protein_id": "ENSP00000387439.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 198,
"cds_start": 11,
"cds_end": null,
"cds_length": 597,
"cdna_start": 11,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Thr403Ile",
"transcript": "XM_047441804.1",
"protein_id": "XP_047297760.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 579,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Ile",
"transcript": "XM_005246207.4",
"protein_id": "XP_005246264.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Thr354Ile",
"transcript": "XM_047441805.1",
"protein_id": "XP_047297761.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 530,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Thr354Ile",
"transcript": "XM_047441806.1",
"protein_id": "XP_047297762.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 530,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Thr307Ile",
"transcript": "XM_047441809.1",
"protein_id": "XP_047297765.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 483,
"cds_start": 920,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.887C>T",
"hgvs_p": "p.Thr296Ile",
"transcript": "XM_047441812.1",
"protein_id": "XP_047297768.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 472,
"cds_start": 887,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2838,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.887C>T",
"hgvs_p": "p.Thr296Ile",
"transcript": "XM_047441814.1",
"protein_id": "XP_047297770.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 472,
"cds_start": 887,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Thr278Ile",
"transcript": "XM_024452335.2",
"protein_id": "XP_024308103.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 454,
"cds_start": 833,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Thr278Ile",
"transcript": "XM_047441820.1",
"protein_id": "XP_047297776.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 454,
"cds_start": 833,
"cds_end": null,
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"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile",
"transcript": "XM_047441821.1",
"protein_id": "XP_047297777.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 425,
"cds_start": 746,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.698-4146C>T",
"hgvs_p": null,
"transcript": "ENST00000402568.5",
"protein_id": "ENSP00000384235.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.695-4146C>T",
"hgvs_p": null,
"transcript": "ENST00000406287.5",
"protein_id": "ENSP00000384492.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.386-7713G>A",
"hgvs_p": null,
"transcript": "ENST00000421122.8",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.230-4063G>A",
"hgvs_p": null,
"transcript": "ENST00000445372.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.272-7713G>A",
"hgvs_p": null,
"transcript": "ENST00000803724.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.495-7713G>A",
"hgvs_p": null,
"transcript": "ENST00000803725.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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},
{
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},
{
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],
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"exon_count": 4,
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},
{
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],
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"exon_count": 2,
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"gene_symbol": "PSMD14-DT",
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},
{
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"intron_variant"
],
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"gene_symbol": "PSMD14-DT",
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},
{
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"strand": true,
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],
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"exon_count": 6,
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"gene_symbol": "TANK",
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},
{
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"strand": true,
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],
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"gene_symbol": "TANK",
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"hgvs_c": "c.*179C>T",
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"transcript": "ENST00000429217.5",
"protein_id": "ENSP00000411041.1",
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"feature": null
}
],
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"dbsnp": "rs1239604686",
"frequency_reference_population": 0.0000049569794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478897,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36727604269981384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.651,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392749.7",
"gene_symbol": "TANK",
"hgnc_id": 11562,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000421122.8",
"gene_symbol": "PSMD14-DT",
"hgnc_id": 56104,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.386-7713G>A",
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}
],
"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
}