← 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: 2-201129923-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201129923&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201129923,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003879.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_003879.7",
"protein_id": "NP_003870.4",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 480,
"cds_start": 58,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "ENST00000309955.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000309955.8",
"protein_id": "ENSP00000312455.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 480,
"cds_start": 58,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "NM_003879.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000423241.6",
"protein_id": "ENSP00000399420.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 480,
"cds_start": 58,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000457277.5",
"protein_id": "ENSP00000411535.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 462,
"cds_start": 58,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 58,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000341582.10",
"protein_id": "ENSP00000345807.6",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 445,
"cds_start": 58,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000395148.6",
"protein_id": "ENSP00000378580.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 250,
"cds_start": 58,
"cds_end": null,
"cds_length": 753,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000341222.10",
"protein_id": "ENSP00000339335.6",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000440180.5",
"protein_id": "ENSP00000406775.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.58A>G",
"hgvs_p": null,
"transcript": "ENST00000439154.6",
"protein_id": "ENSP00000398551.2",
"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": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001127183.4",
"protein_id": "NP_001120655.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 480,
"cds_start": 58,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 14480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001308042.3",
"protein_id": "NP_001294971.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 462,
"cds_start": 58,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 11686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001351590.2",
"protein_id": "NP_001338519.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 462,
"cds_start": 58,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 11448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001202516.3",
"protein_id": "NP_001189445.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 445,
"cds_start": 58,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 14507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000342795.9",
"protein_id": "ENSP00000342809.5",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 292,
"cds_start": 58,
"cds_end": null,
"cds_length": 879,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001308043.2",
"protein_id": "NP_001294972.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 250,
"cds_start": 58,
"cds_end": null,
"cds_length": 753,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001127184.4",
"protein_id": "NP_001120656.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001351591.2",
"protein_id": "NP_001338520.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001351592.2",
"protein_id": "NP_001338521.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000441224.5",
"protein_id": "ENSP00000411897.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 128,
"cds_start": 58,
"cds_end": null,
"cds_length": 387,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000417748.1",
"protein_id": "ENSP00000412882.1",
"transcript_support_level": 4,
"aa_start": 20,
"aa_end": null,
"aa_length": 117,
"cds_start": 58,
"cds_end": null,
"cds_length": 355,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000433445.1",
"protein_id": "ENSP00000391029.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 63,
"cds_start": 58,
"cds_end": null,
"cds_length": 194,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "ENST00000425030.1",
"protein_id": "ENSP00000409570.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 61,
"cds_start": 58,
"cds_end": null,
"cds_length": 188,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "XM_047446185.1",
"protein_id": "XP_047302141.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 480,
"cds_start": 58,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 10874,
"cdna_end": null,
"cdna_length": 20974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "XM_047446197.1",
"protein_id": "XP_047302153.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 221,
"cds_start": 58,
"cds_end": null,
"cds_length": 666,
"cdna_start": 10874,
"cdna_end": null,
"cdna_length": 11645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.281A>G",
"hgvs_p": null,
"transcript": "ENST00000461820.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147243.2",
"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": 8066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147244.2",
"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": 8098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147245.2",
"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": 7540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147246.2",
"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": 8208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147247.2",
"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": 8347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147250.2",
"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": 11365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "NR_147251.2",
"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": 8379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "NR_147253.2",
"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": 8247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "XR_001739013.3",
"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": 8444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "XR_007083684.1",
"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": 7408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "XR_007083702.1",
"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": 7508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "XR_007083713.1",
"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": 8412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "XR_007083715.1",
"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": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.10874A>G",
"hgvs_p": null,
"transcript": "XR_007083723.1",
"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": 18740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "XR_007083735.1",
"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": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "XR_007083740.1",
"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": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "XR_007083742.1",
"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": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "XR_007083745.1",
"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": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.10874A>G",
"hgvs_p": null,
"transcript": "XR_007083755.1",
"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": 14264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.-92A>G",
"hgvs_p": null,
"transcript": "NM_001351594.2",
"protein_id": "NP_001338523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14341,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.-7-3106A>G",
"hgvs_p": null,
"transcript": "NM_001202517.3",
"protein_id": "NP_001189446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14194,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.-7-3106A>G",
"hgvs_p": null,
"transcript": "NM_001351593.2",
"protein_id": "NP_001338522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14062,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.-7-3106A>G",
"hgvs_p": null,
"transcript": "ENST00000443227.5",
"protein_id": "ENSP00000413270.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1679,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.-7-3106A>G",
"hgvs_p": null,
"transcript": "NM_001202519.3",
"protein_id": "NP_001189448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.319-3106A>G",
"hgvs_p": null,
"transcript": "NR_147241.2",
"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": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.319-3106A>G",
"hgvs_p": null,
"transcript": "NR_147242.2",
"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": 7504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.319-3106A>G",
"hgvs_p": null,
"transcript": "NR_147248.2",
"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": 7233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.319-3106A>G",
"hgvs_p": null,
"transcript": "NR_147249.2",
"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": 7929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.187-3106A>G",
"hgvs_p": null,
"transcript": "NR_147255.2",
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.-54A>G",
"hgvs_p": null,
"transcript": "ENST00000461422.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"dbsnp": "rs770415919",
"frequency_reference_population": 0.000004104276,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410428,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07504013180732727,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1041,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.005,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "NM_003879.7",
"gene_symbol": "CFLAR",
"hgnc_id": 1876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val"
}
],
"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
}