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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: 2-161204791-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161204791&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161204791,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001199135.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "ENST00000403609.1",
"protein_id": "ENSP00000385983.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 119,
"cds_start": 325,
"cds_end": null,
"cds_length": 360,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "NM_001199135.3",
"protein_id": "NP_001186064.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 425,
"cds_start": 325,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000392749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "ENST00000392749.7",
"protein_id": "ENSP00000376505.2",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 425,
"cds_start": 325,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001199135.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "ENST00000259075.6",
"protein_id": "ENSP00000259075.2",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 425,
"cds_start": 325,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.505A>G",
"hgvs_p": null,
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "NM_133484.2",
"protein_id": "NP_597841.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 119,
"cds_start": 325,
"cds_end": null,
"cds_length": 360,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "NM_004180.3",
"protein_id": "NP_004171.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 425,
"cds_start": 325,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "ENST00000405852.5",
"protein_id": "ENSP00000385487.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 408,
"cds_start": 325,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.502A>G",
"hgvs_p": "p.Lys168Glu",
"transcript": "ENST00000402568.5",
"protein_id": "ENSP00000384235.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 239,
"cds_start": 502,
"cds_end": null,
"cds_length": 720,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Lys167Glu",
"transcript": "ENST00000406287.5",
"protein_id": "ENSP00000384492.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 238,
"cds_start": 499,
"cds_end": null,
"cds_length": 717,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Lys110Glu",
"transcript": "ENST00000429217.5",
"protein_id": "ENSP00000411041.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 189,
"cds_start": 328,
"cds_end": null,
"cds_length": 570,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Lys135Glu",
"transcript": "ENST00000456358.5",
"protein_id": "ENSP00000392776.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 164,
"cds_start": 403,
"cds_end": null,
"cds_length": 496,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Lys110Glu",
"transcript": "ENST00000432002.5",
"protein_id": "ENSP00000398157.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 137,
"cds_start": 328,
"cds_end": null,
"cds_length": 414,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "XM_047441804.1",
"protein_id": "XP_047297760.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 579,
"cds_start": 787,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Lys216Glu",
"transcript": "XM_005246207.4",
"protein_id": "XP_005246264.3",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 532,
"cds_start": 646,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Lys214Glu",
"transcript": "XM_047441805.1",
"protein_id": "XP_047297761.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 530,
"cds_start": 640,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Lys214Glu",
"transcript": "XM_047441806.1",
"protein_id": "XP_047297762.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 530,
"cds_start": 640,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Lys167Glu",
"transcript": "XM_047441809.1",
"protein_id": "XP_047297765.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 483,
"cds_start": 499,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Lys156Glu",
"transcript": "XM_047441812.1",
"protein_id": "XP_047297768.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 472,
"cds_start": 466,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Lys156Glu",
"transcript": "XM_047441814.1",
"protein_id": "XP_047297770.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 472,
"cds_start": 466,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Lys138Glu",
"transcript": "XM_024452335.2",
"protein_id": "XP_024308103.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 454,
"cds_start": 412,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Lys138Glu",
"transcript": "XM_047441820.1",
"protein_id": "XP_047297776.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 454,
"cds_start": 412,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu",
"transcript": "XM_047441821.1",
"protein_id": "XP_047297777.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 425,
"cds_start": 325,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 504,
"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": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.325A>G",
"hgvs_p": null,
"transcript": "ENST00000432692.6",
"protein_id": "ENSP00000412622.1",
"transcript_support_level": 5,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.325A>G",
"hgvs_p": null,
"transcript": "ENST00000457887.5",
"protein_id": "ENSP00000388930.1",
"transcript_support_level": 5,
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*10A>G",
"hgvs_p": null,
"transcript": "ENST00000440506.5",
"protein_id": "ENSP00000399934.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.*331A>G",
"hgvs_p": null,
"transcript": "ENST00000441987.5",
"protein_id": "ENSP00000410259.1",
"transcript_support_level": 5,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"dbsnp": "rs142599112",
"frequency_reference_population": 0.000033636727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.000015139,
"gnomad_genomes_af": 0.000210261,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15976116061210632,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4399999976158142,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.1183,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.278,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.44,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001199135.3",
"gene_symbol": "TANK",
"hgnc_id": 11562,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Lys109Glu"
}
],
"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
}