← 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: X-130631526-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130631526&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130631526,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001382518.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "NM_006375.4",
"protein_id": "NP_006366.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394363.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006375.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000394363.6",
"protein_id": "ENSP00000377890.1",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006375.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394363.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "ENST00000370927.5",
"protein_id": "ENSP00000359965.1",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370927.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1746T>C",
"hgvs_p": "p.Pro582Pro",
"transcript": "NM_001382518.1",
"protein_id": "NP_001369447.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 673,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382518.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1746T>C",
"hgvs_p": "p.Pro582Pro",
"transcript": "ENST00000686943.1",
"protein_id": "ENSP00000509235.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 673,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686943.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1674T>C",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000714528.1",
"protein_id": "ENSP00000519773.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 649,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714528.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "NM_001382516.1",
"protein_id": "NP_001369445.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382516.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "NM_001382517.1",
"protein_id": "NP_001369446.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382517.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "NM_182314.3",
"protein_id": "NP_872114.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182314.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "ENST00000338144.8",
"protein_id": "ENSP00000337146.3",
"transcript_support_level": 2,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338144.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1551T>C",
"hgvs_p": "p.Pro517Pro",
"transcript": "NM_001382519.1",
"protein_id": "NP_001369448.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 608,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382519.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1551T>C",
"hgvs_p": "p.Pro517Pro",
"transcript": "NM_001382520.1",
"protein_id": "NP_001369449.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 608,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382520.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1530T>C",
"hgvs_p": "p.Pro510Pro",
"transcript": "ENST00000714529.1",
"protein_id": "ENSP00000519774.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 601,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714529.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "NM_001281736.2",
"protein_id": "NP_001268665.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281736.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000370935.5",
"protein_id": "ENSP00000359973.1",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370935.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000900503.1",
"protein_id": "ENSP00000570562.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900503.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000900504.1",
"protein_id": "ENSP00000570563.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900504.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000900508.1",
"protein_id": "ENSP00000570567.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900508.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000900512.1",
"protein_id": "ENSP00000570571.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900512.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000900513.1",
"protein_id": "ENSP00000570572.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900513.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000937154.1",
"protein_id": "ENSP00000607213.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937154.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000937155.1",
"protein_id": "ENSP00000607214.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937155.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000937156.1",
"protein_id": "ENSP00000607215.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937156.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000937158.1",
"protein_id": "ENSP00000607217.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937158.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000937163.1",
"protein_id": "ENSP00000607222.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937163.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000951708.1",
"protein_id": "ENSP00000621767.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951708.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "ENST00000951714.1",
"protein_id": "ENSP00000621773.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951714.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "NM_001382521.1",
"protein_id": "NP_001369450.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382521.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "NM_001382522.1",
"protein_id": "NP_001369451.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382522.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000900502.1",
"protein_id": "ENSP00000570561.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900502.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000900505.1",
"protein_id": "ENSP00000570564.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900505.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000900510.1",
"protein_id": "ENSP00000570569.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900510.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000900511.1",
"protein_id": "ENSP00000570570.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900511.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000900514.1",
"protein_id": "ENSP00000570573.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900514.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000937159.1",
"protein_id": "ENSP00000607218.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937159.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000937160.1",
"protein_id": "ENSP00000607219.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937160.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "ENST00000951716.1",
"protein_id": "ENSP00000621775.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 579,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951716.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1437T>C",
"hgvs_p": "p.Pro479Pro",
"transcript": "ENST00000951715.1",
"protein_id": "ENSP00000621774.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 570,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951715.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Pro438Pro",
"transcript": "ENST00000900509.1",
"protein_id": "ENSP00000570568.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 529,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900509.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Pro438Pro",
"transcript": "ENST00000951709.1",
"protein_id": "ENSP00000621768.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 529,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951709.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Pro436Pro",
"transcript": "ENST00000937162.1",
"protein_id": "ENSP00000607221.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 527,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937162.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1263T>C",
"hgvs_p": "p.Pro421Pro",
"transcript": "ENST00000900507.1",
"protein_id": "ENSP00000570566.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 512,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900507.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1263T>C",
"hgvs_p": "p.Pro421Pro",
"transcript": "ENST00000900515.1",
"protein_id": "ENSP00000570574.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 512,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900515.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1263T>C",
"hgvs_p": "p.Pro421Pro",
"transcript": "ENST00000951710.1",
"protein_id": "ENSP00000621769.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 512,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951710.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1257T>C",
"hgvs_p": "p.Pro419Pro",
"transcript": "ENST00000937157.1",
"protein_id": "ENSP00000607216.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 510,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937157.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1257T>C",
"hgvs_p": "p.Pro419Pro",
"transcript": "ENST00000951713.1",
"protein_id": "ENSP00000621772.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 510,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951713.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Pro412Pro",
"transcript": "ENST00000900506.1",
"protein_id": "ENSP00000570565.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 503,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900506.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Pro412Pro",
"transcript": "ENST00000951711.1",
"protein_id": "ENSP00000621770.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 503,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951711.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1230T>C",
"hgvs_p": "p.Pro410Pro",
"transcript": "ENST00000937161.1",
"protein_id": "ENSP00000607220.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 501,
"cds_start": 1230,
"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": "ENST00000937161.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1230T>C",
"hgvs_p": "p.Pro410Pro",
"transcript": "ENST00000951712.1",
"protein_id": "ENSP00000621771.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 501,
"cds_start": 1230,
"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": "ENST00000951712.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Pro580Pro",
"transcript": "XM_011531245.3",
"protein_id": "XP_011529547.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 671,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531245.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1674T>C",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047441766.1",
"protein_id": "XP_047297722.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 649,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441766.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "XM_011531249.3",
"protein_id": "XP_011529551.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531249.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Pro519Pro",
"transcript": "XM_047441767.1",
"protein_id": "XP_047297723.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441767.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1551T>C",
"hgvs_p": "p.Pro517Pro",
"transcript": "XM_047441768.1",
"protein_id": "XP_047297724.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 608,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441768.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "XM_047441769.1",
"protein_id": "XP_047297725.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441769.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "XM_047441770.1",
"protein_id": "XP_047297726.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441770.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "XM_047441771.1",
"protein_id": "XP_047297727.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441771.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "XM_047441772.1",
"protein_id": "XP_047297728.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441772.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "XM_047441773.1",
"protein_id": "XP_047297729.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 581,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441773.1"
}
],
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"dbsnp": "rs143316789",
"frequency_reference_population": 0.0024675843,
"hom_count_reference_population": 925,
"allele_count_reference_population": 2973,
"gnomad_exomes_af": 0.00251505,
"gnomad_genomes_af": 0.00200352,
"gnomad_exomes_ac": 2749,
"gnomad_genomes_ac": 224,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.171,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001382518.1",
"gene_symbol": "ENOX2",
"hgnc_id": 2259,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1746T>C",
"hgvs_p": "p.Pro582Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}