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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: 3-21421366-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=21421366&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 21421366,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024697.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_024697.3",
"protein_id": "NP_078973.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 395,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281523.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024697.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "ENST00000281523.8",
"protein_id": "ENSP00000281523.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 395,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024697.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281523.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Ala466Thr",
"transcript": "ENST00000706131.1",
"protein_id": "ENSP00000516216.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 515,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706131.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000494108.3",
"protein_id": "ENSP00000495609.3",
"transcript_support_level": 5,
"aa_start": 447,
"aa_end": null,
"aa_length": 496,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494108.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Ala365Thr",
"transcript": "ENST00000963857.1",
"protein_id": "ENSP00000633916.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 414,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963857.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Ala343Thr",
"transcript": "ENST00000706134.1",
"protein_id": "ENSP00000516219.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 392,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706134.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "ENST00000871533.1",
"protein_id": "ENSP00000541592.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 358,
"cds_start": 925,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871533.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Ala466Thr",
"transcript": "XM_017007191.2",
"protein_id": "XP_016862680.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 515,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007191.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "XM_017007192.2",
"protein_id": "XP_016862681.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 496,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007192.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "XM_017007193.2",
"protein_id": "XP_016862682.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 444,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007193.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Ala382Thr",
"transcript": "XM_047448956.1",
"protein_id": "XP_047304912.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 431,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448956.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "XM_017007195.2",
"protein_id": "XP_016862684.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 429,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007195.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Ala365Thr",
"transcript": "XM_017007196.2",
"protein_id": "XP_016862685.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 414,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007196.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Ala362Thr",
"transcript": "XM_017007197.2",
"protein_id": "XP_016862686.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 411,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007197.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Ala361Thr",
"transcript": "XM_017007198.2",
"protein_id": "XP_016862687.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 410,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007198.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Ala361Thr",
"transcript": "XM_047448958.1",
"protein_id": "XP_047304914.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 410,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448958.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Ala343Thr",
"transcript": "XM_047448959.1",
"protein_id": "XP_047304915.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 392,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448959.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Ala342Thr",
"transcript": "XM_047448960.1",
"protein_id": "XP_047304916.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 391,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448960.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Ala313Thr",
"transcript": "XM_017007199.2",
"protein_id": "XP_016862688.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 362,
"cds_start": 937,
"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": "XM_017007199.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "XM_017007200.3",
"protein_id": "XP_016862689.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 359,
"cds_start": 928,
"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_017007200.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Ala252Thr",
"transcript": "XM_017007201.2",
"protein_id": "XP_016862690.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 301,
"cds_start": 754,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007201.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Ala213Thr",
"transcript": "XM_017007202.2",
"protein_id": "XP_016862691.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 262,
"cds_start": 637,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017007202.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "ZNF385D",
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"transcript": "ENST00000467140.2",
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"biotype": "pseudogene",
"feature": "ENST00000467140.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "ZNF385D",
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"hgvs_c": "n.*767G>A",
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"transcript": "ENST00000706132.1",
"protein_id": "ENSP00000516217.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706132.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
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"gene_symbol": "ZNF385D",
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"transcript": "ENST00000706133.1",
"protein_id": "ENSP00000516218.1",
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"feature": "ENST00000706133.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZNF385D",
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"feature": "ENST00000446749.2"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "ZNF385D",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706132.1"
},
{
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"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,
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"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "n.*1232G>A",
"hgvs_p": null,
"transcript": "ENST00000706133.1",
"protein_id": "ENSP00000516218.1",
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"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": "ENST00000706133.1"
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],
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"dbsnp": "rs775396986",
"frequency_reference_population": 0.000015500915,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000150612,
"gnomad_genomes_af": 0.0000197236,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13793861865997314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.1585,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.874,
"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": 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_024697.3",
"gene_symbol": "ZNF385D",
"hgnc_id": 26191,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr"
}
],
"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
}