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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: 3-193645571-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193645571&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 193645571,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000361510.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "NM_130837.3",
"protein_id": "NP_570850.2",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000361510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "ENST00000361510.8",
"protein_id": "ENSP00000355324.2",
"transcript_support_level": 5,
"aa_start": 543,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_130837.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Arg",
"transcript": "ENST00000361908.8",
"protein_id": "ENSP00000354681.3",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 997,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Arg",
"transcript": "NM_130836.3",
"protein_id": "NP_570849.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 997,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Gly507Arg",
"transcript": "NM_130835.3",
"protein_id": "NP_570848.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 979,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Gly507Arg",
"transcript": "ENST00000361715.6",
"protein_id": "ENSP00000355311.2",
"transcript_support_level": 5,
"aa_start": 507,
"aa_end": null,
"aa_length": 979,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Gly506Arg",
"transcript": "NM_130834.3",
"protein_id": "NP_570847.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 978,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Gly506Arg",
"transcript": "ENST00000392437.6",
"protein_id": "ENSP00000376232.2",
"transcript_support_level": 3,
"aa_start": 506,
"aa_end": null,
"aa_length": 978,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Gly488Arg",
"transcript": "ENST00000392436.7",
"protein_id": "ENSP00000376231.3",
"transcript_support_level": 3,
"aa_start": 488,
"aa_end": null,
"aa_length": 972,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000645553.1",
"protein_id": "ENSP00000494725.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 965,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Gly489Arg",
"transcript": "NM_130833.3",
"protein_id": "NP_570846.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 961,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Gly489Arg",
"transcript": "ENST00000361150.6",
"protein_id": "ENSP00000354781.2",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 961,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Gly488Arg",
"transcript": "NM_015560.3",
"protein_id": "NP_056375.2",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 960,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Gly488Arg",
"transcript": "ENST00000361828.7",
"protein_id": "ENSP00000354429.3",
"transcript_support_level": 5,
"aa_start": 488,
"aa_end": null,
"aa_length": 960,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Gly470Arg",
"transcript": "NM_130832.3",
"protein_id": "NP_570845.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 942,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Gly452Arg",
"transcript": "NM_130831.3",
"protein_id": "NP_570844.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 924,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Gly452Arg",
"transcript": "ENST00000646793.1",
"protein_id": "ENSP00000494512.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 924,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Gly382Arg",
"transcript": "ENST00000643329.1",
"protein_id": "ENSP00000493673.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 854,
"cds_start": 1144,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Gly365Arg",
"transcript": "NM_001354663.2",
"protein_id": "NP_001341592.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 837,
"cds_start": 1093,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 6325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Gly364Arg",
"transcript": "NM_001354664.2",
"protein_id": "NP_001341593.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 836,
"cds_start": 1090,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "ENST00000646544.1",
"protein_id": "ENSP00000495028.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 622,
"cds_start": 448,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "XM_047448206.1",
"protein_id": "XP_047304162.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
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"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "n.*890G>A",
"hgvs_p": null,
"transcript": "ENST00000646699.1",
"protein_id": "ENSP00000493913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "n.1102-157G>A",
"hgvs_p": null,
"transcript": "ENST00000644629.1",
"protein_id": "ENSP00000494015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "n.-41G>A",
"hgvs_p": null,
"transcript": "ENST00000483516.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"dbsnp": "rs1553878554",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9106507897377014,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.887,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.588,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000361510.8",
"gene_symbol": "OPA1",
"hgnc_id": 8140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000822231.1",
"gene_symbol": "ENSG00000306963",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2030C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}