← 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: 1-225845227-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225845227&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPHX1",
"hgnc_id": 3401,
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000120.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000242861",
"hgnc_id": null,
"hgvs_c": "n.43+1253C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000424332.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM63A",
"hgnc_id": 29118,
"hgvs_c": "n.2539+1611C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_949163.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9266,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8935133218765259,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001136018.4",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272167.10",
"protein_coding": true,
"protein_id": "NP_001129490.1",
"strand": true,
"transcript": "NM_001136018.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000272167.10",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136018.4",
"protein_coding": true,
"protein_id": "ENSP00000272167.5",
"strand": true,
"transcript": "ENST00000272167.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000366837.5",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355802.4",
"strand": true,
"transcript": "ENST00000366837.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000614058.4",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480004.1",
"strand": true,
"transcript": "ENST00000614058.4",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 492,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1359,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869511.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1359G>T",
"hgvs_p": "p.Lys453Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539570.1",
"strand": true,
"transcript": "ENST00000869511.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 488,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1347,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869476.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1347G>T",
"hgvs_p": "p.Lys449Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539535.1",
"strand": true,
"transcript": "ENST00000869476.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 488,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1347,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869509.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1347G>T",
"hgvs_p": "p.Lys449Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539568.1",
"strand": true,
"transcript": "ENST00000869509.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "K",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869484.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1320G>T",
"hgvs_p": "p.Lys440Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539543.1",
"strand": true,
"transcript": "ENST00000869484.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 467,
"aa_ref": "K",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869483.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1284G>T",
"hgvs_p": "p.Lys428Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539542.1",
"strand": true,
"transcript": "ENST00000869483.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 467,
"aa_ref": "K",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869517.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1284G>T",
"hgvs_p": "p.Lys428Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539576.1",
"strand": true,
"transcript": "ENST00000869517.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "K",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1278,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869470.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Lys426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539529.1",
"strand": true,
"transcript": "ENST00000869470.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "K",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1278,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869516.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Lys426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539575.1",
"strand": true,
"transcript": "ENST00000869516.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "K",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1278,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869519.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Lys426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539578.1",
"strand": true,
"transcript": "ENST00000869519.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000120.4",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000111.1",
"strand": true,
"transcript": "NM_000120.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001291163.2",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278092.1",
"strand": true,
"transcript": "NM_001291163.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378426.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365355.1",
"strand": true,
"transcript": "NM_001378426.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378427.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365356.1",
"strand": true,
"transcript": "NM_001378427.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869469.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539528.1",
"strand": true,
"transcript": "ENST00000869469.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869471.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539530.1",
"strand": true,
"transcript": "ENST00000869471.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869473.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539532.1",
"strand": true,
"transcript": "ENST00000869473.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869474.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539533.1",
"strand": true,
"transcript": "ENST00000869474.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869475.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539534.1",
"strand": true,
"transcript": "ENST00000869475.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869477.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539536.1",
"strand": true,
"transcript": "ENST00000869477.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869478.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539537.1",
"strand": true,
"transcript": "ENST00000869478.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869480.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539539.1",
"strand": true,
"transcript": "ENST00000869480.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869481.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539540.1",
"strand": true,
"transcript": "ENST00000869481.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869485.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539544.1",
"strand": true,
"transcript": "ENST00000869485.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869488.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539547.1",
"strand": true,
"transcript": "ENST00000869488.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 2236,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869489.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539548.1",
"strand": true,
"transcript": "ENST00000869489.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869491.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539550.1",
"strand": true,
"transcript": "ENST00000869491.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 2545,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869492.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539551.1",
"strand": true,
"transcript": "ENST00000869492.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869493.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539552.1",
"strand": true,
"transcript": "ENST00000869493.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869494.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539553.1",
"strand": true,
"transcript": "ENST00000869494.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869495.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539554.1",
"strand": true,
"transcript": "ENST00000869495.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869497.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539556.1",
"strand": true,
"transcript": "ENST00000869497.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869498.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539557.1",
"strand": true,
"transcript": "ENST00000869498.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869499.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539558.1",
"strand": true,
"transcript": "ENST00000869499.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869500.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539559.1",
"strand": true,
"transcript": "ENST00000869500.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869501.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539560.1",
"strand": true,
"transcript": "ENST00000869501.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869505.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539564.1",
"strand": true,
"transcript": "ENST00000869505.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869507.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539566.1",
"strand": true,
"transcript": "ENST00000869507.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869512.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539571.1",
"strand": true,
"transcript": "ENST00000869512.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869514.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539573.1",
"strand": true,
"transcript": "ENST00000869514.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869521.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539580.1",
"strand": true,
"transcript": "ENST00000869521.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869522.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539581.1",
"strand": true,
"transcript": "ENST00000869522.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869523.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539582.1",
"strand": true,
"transcript": "ENST00000869523.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869525.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539584.1",
"strand": true,
"transcript": "ENST00000869525.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869526.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539585.1",
"strand": true,
"transcript": "ENST00000869526.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869527.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539586.1",
"strand": true,
"transcript": "ENST00000869527.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869528.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539587.1",
"strand": true,
"transcript": "ENST00000869528.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869529.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539588.1",
"strand": true,
"transcript": "ENST00000869529.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869530.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539589.1",
"strand": true,
"transcript": "ENST00000869530.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945636.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615695.1",
"strand": true,
"transcript": "ENST00000945636.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945637.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615696.1",
"strand": true,
"transcript": "ENST00000945637.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945638.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Lys416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615697.1",
"strand": true,
"transcript": "ENST00000945638.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1236,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869487.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1236G>T",
"hgvs_p": "p.Lys412Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539546.1",
"strand": true,
"transcript": "ENST00000869487.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1236,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869510.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1236G>T",
"hgvs_p": "p.Lys412Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539569.1",
"strand": true,
"transcript": "ENST00000869510.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 446,
"aa_ref": "K",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1221,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378428.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Lys407Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365357.1",
"strand": true,
"transcript": "NM_001378428.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 446,
"aa_ref": "K",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1221,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869468.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Lys407Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539527.1",
"strand": true,
"transcript": "ENST00000869468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 441,
"aa_ref": "K",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1589,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869482.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1206G>T",
"hgvs_p": "p.Lys402Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539541.1",
"strand": true,
"transcript": "ENST00000869482.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 441,
"aa_ref": "K",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869502.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1206G>T",
"hgvs_p": "p.Lys402Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539561.1",
"strand": true,
"transcript": "ENST00000869502.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 441,
"aa_ref": "K",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869506.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1206G>T",
"hgvs_p": "p.Lys402Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539565.1",
"strand": true,
"transcript": "ENST00000869506.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378429.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365358.1",
"strand": true,
"transcript": "NM_001378429.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378430.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365359.1",
"strand": true,
"transcript": "NM_001378430.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869467.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539526.1",
"strand": true,
"transcript": "ENST00000869467.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869479.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539538.1",
"strand": true,
"transcript": "ENST00000869479.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869490.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539549.1",
"strand": true,
"transcript": "ENST00000869490.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869496.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539555.1",
"strand": true,
"transcript": "ENST00000869496.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869503.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539562.1",
"strand": true,
"transcript": "ENST00000869503.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869504.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539563.1",
"strand": true,
"transcript": "ENST00000869504.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869518.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539577.1",
"strand": true,
"transcript": "ENST00000869518.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869520.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539579.1",
"strand": true,
"transcript": "ENST00000869520.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869524.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1200G>T",
"hgvs_p": "p.Lys400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539583.1",
"strand": true,
"transcript": "ENST00000869524.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 416,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1131,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000912789.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1131G>T",
"hgvs_p": "p.Lys377Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582848.1",
"strand": true,
"transcript": "ENST00000912789.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 413,
"aa_ref": "K",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1122,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869486.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1122G>T",
"hgvs_p": "p.Lys374Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539545.1",
"strand": true,
"transcript": "ENST00000869486.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "K",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1020,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378431.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365360.1",
"strand": true,
"transcript": "NM_001378431.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "K",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1020,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869472.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539531.1",
"strand": true,
"transcript": "ENST00000869472.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "K",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1020,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869508.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539567.1",
"strand": true,
"transcript": "ENST00000869508.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "K",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1020,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869515.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539574.1",
"strand": true,
"transcript": "ENST00000869515.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 266,
"aa_ref": "K",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1068,
"cdna_start": 732,
"cds_end": null,
"cds_length": 801,
"cds_start": 681,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378432.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.681G>T",
"hgvs_p": "p.Lys227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365361.1",
"strand": true,
"transcript": "NM_001378432.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 266,
"aa_ref": "K",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1209,
"cdna_start": 877,
"cds_end": null,
"cds_length": 801,
"cds_start": 681,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869513.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "c.681G>T",
"hgvs_p": "p.Lys227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539572.1",
"strand": true,
"transcript": "ENST00000869513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_165624.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "n.638G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_165625.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "n.1223G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_165626.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "n.1636G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165626.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_165627.1",
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"hgvs_c": "n.1368G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165627.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424332.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000242861",
"hgvs_c": "n.43+1253C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000424332.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007065257.1",
"gene_hgnc_id": 29118,
"gene_symbol": "TMEM63A",
"hgvs_c": "n.2452+1611C>A",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007065257.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_949163.4",
"gene_hgnc_id": 29118,
"gene_symbol": "TMEM63A",
"hgvs_c": "n.2539+1611C>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_949163.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs4149229",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3401,
"gene_symbol": "EPHX1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.438,
"pos": 225845227,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.117,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000120.4"
}
]
}