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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: 11-68036356-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68036356&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68036356,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002496.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "NM_002496.4",
"protein_id": "NP_002487.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313468.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002496.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000313468.10",
"protein_id": "ENSP00000315774.5",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002496.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313468.10"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Ala13Asp",
"transcript": "ENST00000528492.1",
"protein_id": "ENSP00000432848.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 64,
"cds_start": 38,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528492.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852151.1",
"protein_id": "ENSP00000522210.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852151.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852152.1",
"protein_id": "ENSP00000522211.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852152.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852153.1",
"protein_id": "ENSP00000522212.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852153.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852154.1",
"protein_id": "ENSP00000522213.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852154.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852155.1",
"protein_id": "ENSP00000522214.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852155.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000852156.1",
"protein_id": "ENSP00000522215.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852156.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945140.1",
"protein_id": "ENSP00000615199.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945140.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945141.1",
"protein_id": "ENSP00000615200.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945141.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945142.1",
"protein_id": "ENSP00000615201.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945142.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945143.1",
"protein_id": "ENSP00000615202.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945143.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945144.1",
"protein_id": "ENSP00000615203.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945144.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945145.1",
"protein_id": "ENSP00000615204.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945145.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000945146.1",
"protein_id": "ENSP00000615205.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 210,
"cds_start": 476,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945146.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000526339.5",
"protein_id": "ENSP00000436287.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 183,
"cds_start": 476,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526339.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.373-106C>A",
"hgvs_p": null,
"transcript": "ENST00000927555.1",
"protein_id": "ENSP00000597614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.*127C>A",
"hgvs_p": null,
"transcript": "ENST00000524810.5",
"protein_id": "ENSP00000434283.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.*531C>A",
"hgvs_p": null,
"transcript": "ENST00000526446.5",
"protein_id": "ENSP00000433645.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526446.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.328C>A",
"hgvs_p": null,
"transcript": "ENST00000531282.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.*127C>A",
"hgvs_p": null,
"transcript": "ENST00000524810.5",
"protein_id": "ENSP00000434283.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.*531C>A",
"hgvs_p": null,
"transcript": "ENST00000526446.5",
"protein_id": "ENSP00000433645.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526446.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "c.*8C>A",
"hgvs_p": null,
"transcript": "ENST00000525419.5",
"protein_id": "ENSP00000433521.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525419.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"hgvs_c": "n.*55C>A",
"hgvs_p": null,
"transcript": "ENST00000526542.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526542.1"
}
],
"gene_symbol": "NDUFS8",
"gene_hgnc_id": 7715,
"dbsnp": "rs397514617",
"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": 0.9437621831893921,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.953,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.596,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_002496.4",
"gene_symbol": "NDUFS8",
"hgnc_id": 7715,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp"
}
],
"clinvar_disease": " nuclear type 2,Mitochondrial complex I deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}