← Back to variant description
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: 2-131528026-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=131528026&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 131528026,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349042.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001258306.3",
"protein_id": "NP_001245235.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 312,
"cds_start": 56,
"cds_end": null,
"cds_length": 939,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": "ENST00000409856.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258306.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000409856.8",
"protein_id": "ENSP00000387009.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 312,
"cds_start": 56,
"cds_end": null,
"cds_length": 939,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": "NM_001258306.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409856.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000295171.10",
"protein_id": "ENSP00000295171.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 378,
"cds_start": 56,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295171.10"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000467992.6",
"protein_id": "ENSP00000444610.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 272,
"cds_start": 56,
"cds_end": null,
"cds_length": 819,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467992.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "n.352G>T",
"hgvs_p": null,
"transcript": "ENST00000465939.1",
"protein_id": null,
"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": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465939.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944310.1",
"protein_id": "ENSP00000614369.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 512,
"cds_start": 56,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944310.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944305.1",
"protein_id": "ENSP00000614364.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 470,
"cds_start": 56,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944305.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944308.1",
"protein_id": "ENSP00000614367.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 424,
"cds_start": 56,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944308.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349042.2",
"protein_id": "NP_001335971.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 420,
"cds_start": 56,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349042.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899934.1",
"protein_id": "ENSP00000569993.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 420,
"cds_start": 56,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899934.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899928.1",
"protein_id": "ENSP00000569987.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 382,
"cds_start": 56,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899928.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944307.1",
"protein_id": "ENSP00000614366.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 382,
"cds_start": 56,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944307.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_138770.4",
"protein_id": "NP_620125.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 378,
"cds_start": 56,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138770.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001258304.3",
"protein_id": "NP_001245233.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 375,
"cds_start": 56,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258304.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899932.1",
"protein_id": "ENSP00000569991.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 374,
"cds_start": 56,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899932.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944304.1",
"protein_id": "ENSP00000614363.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 358,
"cds_start": 56,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944304.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944309.1",
"protein_id": "ENSP00000614368.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 358,
"cds_start": 56,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944309.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349043.2",
"protein_id": "NP_001335972.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 354,
"cds_start": 56,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349043.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899929.1",
"protein_id": "ENSP00000569988.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 354,
"cds_start": 56,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899929.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000944306.1",
"protein_id": "ENSP00000614365.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 353,
"cds_start": 56,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944306.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000912825.1",
"protein_id": "ENSP00000582884.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 337,
"cds_start": 56,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912825.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899935.1",
"protein_id": "ENSP00000569994.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 333,
"cds_start": 56,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899935.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899930.1",
"protein_id": "ENSP00000569989.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 316,
"cds_start": 56,
"cds_end": null,
"cds_length": 951,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899930.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899933.1",
"protein_id": "ENSP00000569992.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 316,
"cds_start": 56,
"cds_end": null,
"cds_length": 951,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899933.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899936.1",
"protein_id": "ENSP00000569995.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 311,
"cds_start": 56,
"cds_end": null,
"cds_length": 936,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899936.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349041.2",
"protein_id": "NP_001335970.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 296,
"cds_start": 56,
"cds_end": null,
"cds_length": 891,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349041.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000899931.1",
"protein_id": "ENSP00000569990.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 295,
"cds_start": 56,
"cds_end": null,
"cds_length": 888,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899931.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001258305.3",
"protein_id": "NP_001245234.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 272,
"cds_start": 56,
"cds_end": null,
"cds_length": 819,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258305.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349044.2",
"protein_id": "NP_001335973.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 272,
"cds_start": 56,
"cds_end": null,
"cds_length": 819,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349044.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "ENST00000912826.1",
"protein_id": "ENSP00000582885.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 268,
"cds_start": 56,
"cds_end": null,
"cds_length": 807,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912826.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349045.2",
"protein_id": "NP_001335974.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 248,
"cds_start": 56,
"cds_end": null,
"cds_length": 747,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349045.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349047.2",
"protein_id": "NP_001335976.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 230,
"cds_start": 56,
"cds_end": null,
"cds_length": 693,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349047.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "NM_001349046.2",
"protein_id": "NP_001335975.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 206,
"cds_start": 56,
"cds_end": null,
"cds_length": 621,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349046.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005234.3",
"protein_id": "XP_016860723.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 424,
"cds_start": 56,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005234.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005235.2",
"protein_id": "XP_016860724.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 382,
"cds_start": 56,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005235.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005236.2",
"protein_id": "XP_016860725.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 358,
"cds_start": 56,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005236.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005237.2",
"protein_id": "XP_016860726.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 342,
"cds_start": 56,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005237.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446261.1",
"protein_id": "XP_047302217.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 338,
"cds_start": 56,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446261.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005238.2",
"protein_id": "XP_016860727.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 318,
"cds_start": 56,
"cds_end": null,
"cds_length": 957,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005238.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_017005239.2",
"protein_id": "XP_016860728.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 316,
"cds_start": 56,
"cds_end": null,
"cds_length": 951,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005239.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446262.1",
"protein_id": "XP_047302218.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 315,
"cds_start": 56,
"cds_end": null,
"cds_length": 948,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446262.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446263.1",
"protein_id": "XP_047302219.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 310,
"cds_start": 56,
"cds_end": null,
"cds_length": 933,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446263.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446264.1",
"protein_id": "XP_047302220.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 304,
"cds_start": 56,
"cds_end": null,
"cds_length": 915,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446264.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446265.1",
"protein_id": "XP_047302221.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 249,
"cds_start": 56,
"cds_end": null,
"cds_length": 750,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446265.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446266.1",
"protein_id": "XP_047302222.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 244,
"cds_start": 56,
"cds_end": null,
"cds_length": 735,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446266.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val",
"transcript": "XM_047446267.1",
"protein_id": "XP_047302223.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 231,
"cds_start": 56,
"cds_end": null,
"cds_length": 696,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446267.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.-20-1621G>T",
"hgvs_p": null,
"transcript": "XM_017005241.2",
"protein_id": "XP_016860730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005241.2"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "c.-20-1621G>T",
"hgvs_p": null,
"transcript": "XM_017005244.2",
"protein_id": "XP_016860733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005244.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "n.56G>T",
"hgvs_p": null,
"transcript": "ENST00000454549.6",
"protein_id": "ENSP00000388252.2",
"transcript_support_level": 3,
"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": 930,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454549.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "n.116G>T",
"hgvs_p": null,
"transcript": "ENST00000468650.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "n.93G>T",
"hgvs_p": null,
"transcript": "ENST00000478665.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 516,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"hgvs_c": "n.139G>T",
"hgvs_p": null,
"transcript": "XR_007084410.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007084410.1"
}
],
"gene_symbol": "CCDC74A",
"gene_hgnc_id": 25197,
"dbsnp": "rs1457118986",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24935486912727356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.236,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.419,
"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_001349042.2",
"gene_symbol": "CCDC74A",
"hgnc_id": 25197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Gly19Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}