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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: 2-161231348-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161231348&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161231348,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392749.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "NM_001199135.3",
"protein_id": "NP_001186064.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 425,
"cds_start": 898,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000392749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "ENST00000392749.7",
"protein_id": "ENSP00000376505.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 425,
"cds_start": 898,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001199135.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "ENST00000259075.6",
"protein_id": "ENSP00000259075.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 425,
"cds_start": 898,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "NM_004180.3",
"protein_id": "NP_004171.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 425,
"cds_start": 898,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "ENST00000405852.5",
"protein_id": "ENSP00000385487.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 408,
"cds_start": 898,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.571A>G",
"hgvs_p": "p.Ile191Val",
"transcript": "ENST00000437623.1",
"protein_id": "ENSP00000412556.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 275,
"cds_start": 571,
"cds_end": null,
"cds_length": 828,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.163A>G",
"hgvs_p": "p.Ile55Val",
"transcript": "ENST00000439442.1",
"protein_id": "ENSP00000387439.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 198,
"cds_start": 163,
"cds_end": null,
"cds_length": 597,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1360A>G",
"hgvs_p": "p.Ile454Val",
"transcript": "XM_047441804.1",
"protein_id": "XP_047297760.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 579,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "XM_005246207.4",
"protein_id": "XP_005246264.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 532,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1213A>G",
"hgvs_p": "p.Ile405Val",
"transcript": "XM_047441805.1",
"protein_id": "XP_047297761.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 530,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1213A>G",
"hgvs_p": "p.Ile405Val",
"transcript": "XM_047441806.1",
"protein_id": "XP_047297762.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 530,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1072A>G",
"hgvs_p": "p.Ile358Val",
"transcript": "XM_047441809.1",
"protein_id": "XP_047297765.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 483,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1039A>G",
"hgvs_p": "p.Ile347Val",
"transcript": "XM_047441812.1",
"protein_id": "XP_047297768.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 472,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1039A>G",
"hgvs_p": "p.Ile347Val",
"transcript": "XM_047441814.1",
"protein_id": "XP_047297770.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 472,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.985A>G",
"hgvs_p": "p.Ile329Val",
"transcript": "XM_024452335.2",
"protein_id": "XP_024308103.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 454,
"cds_start": 985,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.985A>G",
"hgvs_p": "p.Ile329Val",
"transcript": "XM_047441820.1",
"protein_id": "XP_047297776.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 454,
"cds_start": 985,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.898A>G",
"hgvs_p": "p.Ile300Val",
"transcript": "XM_047441821.1",
"protein_id": "XP_047297777.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 425,
"cds_start": 898,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1077,
"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.698-3994A>G",
"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.695-3994A>G",
"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,
"cds_length": 717,
"cdna_start": null,
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"cdna_length": 875,
"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.386-7865T>C",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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.230-4215T>C",
"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.272-7865T>C",
"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.495-7865T>C",
"hgvs_p": null,
"transcript": "ENST00000803725.1",
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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",
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"hgvs_c": "n.474-7865T>C",
"hgvs_p": null,
"transcript": "ENST00000803728.1",
"protein_id": null,
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"cds_start": -4,
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"feature": null
},
{
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"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.199-7865T>C",
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"transcript": "ENST00000803729.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
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"hgvs_c": "n.228-7865T>C",
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"transcript": "ENST00000803730.1",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 929,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.349-7865T>C",
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"transcript": "NR_110593.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 574,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.*173A>G",
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"transcript": "ENST00000468831.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 905,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"dbsnp": "rs201038673",
"frequency_reference_population": 0.00009788652,
"hom_count_reference_population": 1,
"allele_count_reference_population": 158,
"gnomad_exomes_af": 0.000101923,
"gnomad_genomes_af": 0.0000591218,
"gnomad_exomes_ac": 149,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10191884636878967,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.595,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392749.7",
"gene_symbol": "TANK",
"hgnc_id": 11562,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Ile300Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000421122.8",
"gene_symbol": "PSMD14-DT",
"hgnc_id": 56104,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.386-7865T>C",
"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
}