← 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: 17-74863914-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74863914&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74863914,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001258012.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Arg386Gly",
"transcript": "NM_024417.5",
"protein_id": "NP_077728.3",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 491,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293195.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024417.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Arg386Gly",
"transcript": "ENST00000293195.10",
"protein_id": "ENSP00000293195.5",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 491,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293195.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000581530.5",
"protein_id": "ENSP00000462972.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 497,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581530.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1844C>G",
"hgvs_p": null,
"transcript": "ENST00000578473.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578473.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1303C>G",
"hgvs_p": "p.Arg435Gly",
"transcript": "ENST00000933581.1",
"protein_id": "ENSP00000603640.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 540,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933581.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1285C>G",
"hgvs_p": "p.Arg429Gly",
"transcript": "NM_001258012.4",
"protein_id": "NP_001244941.2",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258012.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1285C>G",
"hgvs_p": "p.Arg429Gly",
"transcript": "ENST00000442102.6",
"protein_id": "ENSP00000416515.2",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442102.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1252C>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "ENST00000946597.1",
"protein_id": "ENSP00000616656.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 523,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946597.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1249C>G",
"hgvs_p": "p.Arg417Gly",
"transcript": "NM_001258013.4",
"protein_id": "NP_001244942.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 522,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258013.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1249C>G",
"hgvs_p": "p.Arg417Gly",
"transcript": "ENST00000413947.6",
"protein_id": "ENSP00000408595.2",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 522,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413947.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1240C>G",
"hgvs_p": "p.Arg414Gly",
"transcript": "ENST00000946595.1",
"protein_id": "ENSP00000616654.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 519,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946595.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1234C>G",
"hgvs_p": "p.Arg412Gly",
"transcript": "ENST00000946589.1",
"protein_id": "ENSP00000616648.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 517,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946589.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1204C>G",
"hgvs_p": "p.Arg402Gly",
"transcript": "ENST00000946592.1",
"protein_id": "ENSP00000616651.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 507,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946592.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Arg386Gly",
"transcript": "ENST00000933578.1",
"protein_id": "ENSP00000603637.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 501,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933578.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1177C>G",
"hgvs_p": "p.Arg393Gly",
"transcript": "ENST00000868980.1",
"protein_id": "ENSP00000539039.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 498,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868980.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "NM_004110.6",
"protein_id": "NP_004101.3",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 497,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004110.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1162C>G",
"hgvs_p": "p.Arg388Gly",
"transcript": "ENST00000946596.1",
"protein_id": "ENSP00000616655.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 493,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946596.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1159C>G",
"hgvs_p": "p.Arg387Gly",
"transcript": "ENST00000868974.1",
"protein_id": "ENSP00000539033.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 492,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868974.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Arg385Gly",
"transcript": "ENST00000868979.1",
"protein_id": "ENSP00000539038.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 490,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868979.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Arg385Gly",
"transcript": "ENST00000933576.1",
"protein_id": "ENSP00000603635.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 490,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933576.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "ENST00000868978.1",
"protein_id": "ENSP00000539037.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 489,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868978.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1147C>G",
"hgvs_p": "p.Arg383Gly",
"transcript": "ENST00000933579.1",
"protein_id": "ENSP00000603638.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 488,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933579.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Arg386Gly",
"transcript": "ENST00000946594.1",
"protein_id": "ENSP00000616653.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 487,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946594.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000868977.1",
"protein_id": "ENSP00000539036.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 484,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868977.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Arg378Gly",
"transcript": "NM_001258014.4",
"protein_id": "NP_001244943.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 483,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258014.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Arg378Gly",
"transcript": "ENST00000582944.5",
"protein_id": "ENSP00000462183.1",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 483,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582944.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "ENST00000946588.1",
"protein_id": "ENSP00000616647.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 481,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946588.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1114C>G",
"hgvs_p": "p.Arg372Gly",
"transcript": "ENST00000946593.1",
"protein_id": "ENSP00000616652.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 477,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946593.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "ENST00000946587.1",
"protein_id": "ENSP00000616646.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 476,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946587.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "ENST00000946590.1",
"protein_id": "ENSP00000616649.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 467,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946590.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"transcript": "ENST00000583917.5",
"protein_id": "ENSP00000463940.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 463,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583917.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.Arg357Gly",
"transcript": "ENST00000868976.1",
"protein_id": "ENSP00000539035.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 462,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868976.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000933577.1",
"protein_id": "ENSP00000603636.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 460,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933577.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Arg351Gly",
"transcript": "ENST00000933580.1",
"protein_id": "ENSP00000603639.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 456,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933580.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Arg350Gly",
"transcript": "ENST00000946598.1",
"protein_id": "ENSP00000616657.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946598.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1036C>G",
"hgvs_p": "p.Arg346Gly",
"transcript": "NM_001258015.3",
"protein_id": "NP_001244944.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 451,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258015.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1036C>G",
"hgvs_p": "p.Arg346Gly",
"transcript": "ENST00000420580.6",
"protein_id": "ENSP00000414172.2",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 451,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420580.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Arg345Gly",
"transcript": "ENST00000868975.1",
"protein_id": "ENSP00000539034.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 450,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868975.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1000C>G",
"hgvs_p": "p.Arg334Gly",
"transcript": "NM_001258016.3",
"protein_id": "NP_001244945.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 439,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258016.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1000C>G",
"hgvs_p": "p.Arg334Gly",
"transcript": "ENST00000544854.5",
"protein_id": "ENSP00000445432.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 439,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544854.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1002+234C>G",
"hgvs_p": null,
"transcript": "ENST00000946591.1",
"protein_id": "ENSP00000616650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1115C>G",
"hgvs_p": null,
"transcript": "ENST00000577509.5",
"protein_id": "ENSP00000462083.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000577509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1348C>G",
"hgvs_p": null,
"transcript": "ENST00000579482.5",
"protein_id": "ENSP00000461993.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1306C>G",
"hgvs_p": null,
"transcript": "NR_047576.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_047576.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1115C>G",
"hgvs_p": null,
"transcript": "ENST00000577509.5",
"protein_id": "ENSP00000462083.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000577509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1348C>G",
"hgvs_p": null,
"transcript": "ENST00000579482.5",
"protein_id": "ENSP00000461993.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*639+234C>G",
"hgvs_p": null,
"transcript": "ENST00000583881.5",
"protein_id": "ENSP00000464670.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000583881.5"
}
],
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"dbsnp": "rs760345680",
"frequency_reference_population": 0.0000013687436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136874,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9443056583404541,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.49,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.672,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001258012.4",
"gene_symbol": "FDXR",
"hgnc_id": 3642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1285C>G",
"hgvs_p": "p.Arg429Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}