← 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: 3-193638064-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193638064&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "OPA1",
"hgnc_id": 8140,
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_130837.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_score": 7,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.7937,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8957048654556274,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "K",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_130837.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361510.8",
"protein_coding": true,
"protein_id": "NP_570850.2",
"strand": true,
"transcript": "NM_130837.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "K",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361510.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130837.3",
"protein_coding": true,
"protein_id": "ENSP00000355324.2",
"strand": true,
"transcript": "ENST00000361510.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 997,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361908.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354681.3",
"strand": true,
"transcript": "ENST00000361908.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "K",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1163,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000968586.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1163A>C",
"hgvs_p": "p.Lys388Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638645.1",
"strand": true,
"transcript": "ENST00000968586.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "K",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 3009,
"cds_start": 1109,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000968584.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Lys370Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638643.1",
"strand": true,
"transcript": "ENST00000968584.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 997,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6375,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_130836.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570849.2",
"strand": true,
"transcript": "NM_130836.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 997,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890753.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560812.1",
"strand": true,
"transcript": "ENST00000890753.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 997,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6389,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925500.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595559.1",
"strand": true,
"transcript": "ENST00000925500.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 979,
"aa_ref": "K",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_130835.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1040A>C",
"hgvs_p": "p.Lys347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570848.1",
"strand": true,
"transcript": "NM_130835.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 979,
"aa_ref": "K",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361715.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1040A>C",
"hgvs_p": "p.Lys347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355311.2",
"strand": true,
"transcript": "ENST00000361715.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 979,
"aa_ref": "K",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 2940,
"cds_start": 986,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000890756.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Lys329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560815.1",
"strand": true,
"transcript": "ENST00000890756.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 979,
"aa_ref": "K",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968579.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1040A>C",
"hgvs_p": "p.Lys347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638638.1",
"strand": true,
"transcript": "ENST00000968579.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 978,
"aa_ref": "K",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 2937,
"cds_start": 1037,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_130834.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Lys346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570847.2",
"strand": true,
"transcript": "NM_130834.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 978,
"aa_ref": "K",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 2937,
"cds_start": 1037,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000392437.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Lys346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376232.2",
"strand": true,
"transcript": "ENST00000392437.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 978,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 2937,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000890755.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560814.1",
"strand": true,
"transcript": "ENST00000890755.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 975,
"aa_ref": "K",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1028,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890757.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1028A>C",
"hgvs_p": "p.Lys343Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560816.1",
"strand": true,
"transcript": "ENST00000890757.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 2919,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000392436.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376231.3",
"strand": true,
"transcript": "ENST00000392436.7",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 968,
"aa_ref": "K",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 2907,
"cds_start": 1148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000968581.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638640.1",
"strand": true,
"transcript": "ENST00000968581.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 965,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 2898,
"cds_start": 998,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645553.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.998A>C",
"hgvs_p": "p.Lys333Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494725.1",
"strand": true,
"transcript": "ENST00000645553.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 961,
"aa_ref": "K",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6267,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 2886,
"cds_start": 986,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_130833.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Lys329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570846.1",
"strand": true,
"transcript": "NM_130833.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 961,
"aa_ref": "K",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6330,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2886,
"cds_start": 986,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361150.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Lys329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354781.2",
"strand": true,
"transcript": "ENST00000361150.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6264,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 2883,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015560.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056375.2",
"strand": true,
"transcript": "NM_015560.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6328,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2883,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361828.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354429.3",
"strand": true,
"transcript": "ENST00000361828.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890752.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560811.1",
"strand": true,
"transcript": "ENST00000890752.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 942,
"aa_ref": "K",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6210,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2829,
"cds_start": 929,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_130832.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.929A>C",
"hgvs_p": "p.Lys310Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570845.1",
"strand": true,
"transcript": "NM_130832.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 942,
"aa_ref": "K",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 2829,
"cds_start": 929,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968585.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.929A>C",
"hgvs_p": "p.Lys310Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638644.1",
"strand": true,
"transcript": "ENST00000968585.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 925,
"aa_ref": "K",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 2778,
"cds_start": 878,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968580.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.878A>C",
"hgvs_p": "p.Lys293Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638639.1",
"strand": true,
"transcript": "ENST00000968580.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "K",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 2775,
"cds_start": 875,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_130831.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Lys292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570844.1",
"strand": true,
"transcript": "NM_130831.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "K",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2775,
"cds_start": 875,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646793.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Lys292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494512.1",
"strand": true,
"transcript": "ENST00000646793.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 923,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 2772,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968582.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638641.1",
"strand": true,
"transcript": "ENST00000968582.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 910,
"aa_ref": "K",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 983,
"cds_end": null,
"cds_length": 2733,
"cds_start": 833,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890754.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.833A>C",
"hgvs_p": "p.Lys278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560813.1",
"strand": true,
"transcript": "ENST00000890754.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 907,
"aa_ref": "K",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2724,
"cds_start": 824,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968583.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.824A>C",
"hgvs_p": "p.Lys275Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638642.1",
"strand": true,
"transcript": "ENST00000968583.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 854,
"aa_ref": "K",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6068,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 2565,
"cds_start": 665,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643329.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.665A>C",
"hgvs_p": "p.Lys222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493673.1",
"strand": true,
"transcript": "ENST00000643329.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "K",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6325,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 2514,
"cds_start": 614,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354663.2",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Lys205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341592.1",
"strand": true,
"transcript": "NM_001354663.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 836,
"aa_ref": "K",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6322,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2511,
"cds_start": 611,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354664.2",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.611A>C",
"hgvs_p": "p.Lys204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341593.1",
"strand": true,
"transcript": "NM_001354664.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "K",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5071,
"cdna_start": 46,
"cds_end": null,
"cds_length": 1869,
"cds_start": 44,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000646544.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.44A>C",
"hgvs_p": "p.Lys15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495028.1",
"strand": true,
"transcript": "ENST00000646544.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "K",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3144,
"cds_start": 1148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047448206.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304162.1",
"strand": true,
"transcript": "XM_047448206.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "K",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1094,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448207.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Lys365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304163.1",
"strand": true,
"transcript": "XM_047448207.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "K",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 3033,
"cds_start": 1037,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448208.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Lys346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304164.1",
"strand": true,
"transcript": "XM_047448208.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 993,
"aa_ref": "K",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 2982,
"cds_start": 986,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448209.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Lys329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304165.1",
"strand": true,
"transcript": "XM_047448209.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 992,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 2979,
"cds_start": 983,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448210.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Lys328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304166.1",
"strand": true,
"transcript": "XM_047448210.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 956,
"aa_ref": "K",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 2871,
"cds_start": 875,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448211.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Lys292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304167.1",
"strand": true,
"transcript": "XM_047448211.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 923,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 2772,
"cds_start": 776,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047448212.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.776A>C",
"hgvs_p": "p.Lys259Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304168.1",
"strand": true,
"transcript": "XM_047448212.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 729,
"aa_ref": "K",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047448213.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.Lys383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304169.1",
"strand": true,
"transcript": "XM_047448213.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 726,
"aa_ref": "K",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 459,
"cds_end": null,
"cds_length": 2181,
"cds_start": 185,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448214.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Lys62Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304170.1",
"strand": true,
"transcript": "XM_047448214.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 694,
"aa_ref": "K",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2085,
"cds_start": 185,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448216.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Lys62Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304172.1",
"strand": true,
"transcript": "XM_047448216.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000475899.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.179A>C",
"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": "ENST00000475899.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000497189.5",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.469A>C",
"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": "ENST00000497189.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642289.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*567A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494736.1",
"strand": true,
"transcript": "ENST00000642289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000642445.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.983A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495535.1",
"strand": true,
"transcript": "ENST00000642445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000642593.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.983A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494273.1",
"strand": true,
"transcript": "ENST00000642593.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643737.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*1064A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494210.1",
"strand": true,
"transcript": "ENST00000643737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644595.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.983A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494121.1",
"strand": true,
"transcript": "ENST00000644595.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644629.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.641A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494015.1",
"strand": true,
"transcript": "ENST00000644629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644841.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.611A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493988.1",
"strand": true,
"transcript": "ENST00000644841.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644959.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.950A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495943.1",
"strand": true,
"transcript": "ENST00000644959.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000646085.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*461A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494509.1",
"strand": true,
"transcript": "ENST00000646085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5916,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646277.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.1148A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495289.1",
"strand": true,
"transcript": "ENST00000646277.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646699.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*567A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493913.1",
"strand": true,
"transcript": "ENST00000646699.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642289.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*567A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494736.1",
"strand": true,
"transcript": "ENST00000642289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643737.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*1064A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494210.1",
"strand": true,
"transcript": "ENST00000643737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000646085.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*461A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494509.1",
"strand": true,
"transcript": "ENST00000646085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646699.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*567A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493913.1",
"strand": true,
"transcript": "ENST00000646699.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000495476.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "n.*16A>C",
"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": "ENST00000495476.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.994451505760015,
"dbsnp": "rs398124303",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 6.85666e-7,
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85666e-7,
"gnomad_exomes_homalt": 0,
"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": "Pathogenic",
"phylop100way_score": 9.306,
"pos": 193638064,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.903,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.878000020980835,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_130837.3"
}
]
}