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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: 11-85635668-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85635668&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85635668,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000358867.11",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.401delA",
"hgvs_p": "p.Asn134fs",
"transcript": "NM_018480.7",
"protein_id": "NP_060950.3",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 230,
"cds_start": 401,
"cds_end": null,
"cds_length": 693,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": "ENST00000358867.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.401delA",
"hgvs_p": "p.Asn134fs",
"transcript": "ENST00000358867.11",
"protein_id": "ENSP00000351737.7",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 230,
"cds_start": 401,
"cds_end": null,
"cds_length": 693,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": "NM_018480.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.311delA",
"hgvs_p": "p.Asn104fs",
"transcript": "ENST00000393375.5",
"protein_id": "ENSP00000377039.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 200,
"cds_start": 311,
"cds_end": null,
"cds_length": 603,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*450delA",
"hgvs_p": null,
"transcript": "ENST00000529197.1",
"protein_id": "ENSP00000436813.1",
"transcript_support_level": 1,
"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": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*450delA",
"hgvs_p": null,
"transcript": "ENST00000529197.1",
"protein_id": "ENSP00000436813.1",
"transcript_support_level": 1,
"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": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.341delA",
"hgvs_p": "p.Asn114fs",
"transcript": "NM_001193537.3",
"protein_id": "NP_001180466.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 210,
"cds_start": 341,
"cds_end": null,
"cds_length": 633,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.311delA",
"hgvs_p": "p.Asn104fs",
"transcript": "NM_001193538.3",
"protein_id": "NP_001180467.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 200,
"cds_start": 311,
"cds_end": null,
"cds_length": 603,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.311delA",
"hgvs_p": "p.Asn104fs",
"transcript": "NM_001256546.2",
"protein_id": "NP_001243475.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 200,
"cds_start": 311,
"cds_end": null,
"cds_length": 603,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.263delA",
"hgvs_p": "p.Asn88fs",
"transcript": "NM_001256547.2",
"protein_id": "NP_001243476.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 184,
"cds_start": 263,
"cds_end": null,
"cds_length": 555,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.401delA",
"hgvs_p": "p.Asn134fs",
"transcript": "ENST00000534341.1",
"protein_id": "ENSP00000433471.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 170,
"cds_start": 401,
"cds_end": null,
"cds_length": 513,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.176delA",
"hgvs_p": "p.Asn59fs",
"transcript": "NM_001350393.1",
"protein_id": "NP_001337322.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 155,
"cds_start": 176,
"cds_end": null,
"cds_length": 468,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.152delA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000531274.1",
"protein_id": "ENSP00000433116.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 123,
"cds_start": 152,
"cds_end": null,
"cds_length": 374,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*102delA",
"hgvs_p": null,
"transcript": "ENST00000526822.5",
"protein_id": "ENSP00000433449.1",
"transcript_support_level": 2,
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*341delA",
"hgvs_p": null,
"transcript": "ENST00000530783.5",
"protein_id": "ENSP00000435541.1",
"transcript_support_level": 5,
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*400delA",
"hgvs_p": null,
"transcript": "ENST00000531477.5",
"protein_id": "ENSP00000436468.1",
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*347delA",
"hgvs_p": null,
"transcript": "ENST00000531718.5",
"protein_id": "ENSP00000435998.1",
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.505delA",
"hgvs_p": null,
"transcript": "NR_146645.1",
"protein_id": null,
"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": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.333delA",
"hgvs_p": null,
"transcript": "NR_146646.1",
"protein_id": null,
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*102delA",
"hgvs_p": null,
"transcript": "ENST00000526822.5",
"protein_id": "ENSP00000433449.1",
"transcript_support_level": 2,
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*341delA",
"hgvs_p": null,
"transcript": "ENST00000530783.5",
"protein_id": "ENSP00000435541.1",
"transcript_support_level": 5,
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*400delA",
"hgvs_p": null,
"transcript": "ENST00000531477.5",
"protein_id": "ENSP00000436468.1",
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "n.*347delA",
"hgvs_p": null,
"transcript": "ENST00000531718.5",
"protein_id": "ENSP00000435998.1",
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.*1364delA",
"hgvs_p": null,
"transcript": "NM_001350394.2",
"protein_id": "NP_001337323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.*1364delA",
"hgvs_p": null,
"transcript": "NM_001350395.2",
"protein_id": "NP_001337324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TMEM126B",
"gene_hgnc_id": 30883,
"hgvs_c": "c.*1364delA",
"hgvs_p": null,
"transcript": "NM_001350396.2",
"protein_id": "NP_001337325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM126B",
"gene_hgnc_id": 30883,
"dbsnp": "rs886037835",
"frequency_reference_population": 0.000008956907,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000895691,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.73,
"phylop100way_prediction": "Benign",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000358867.11",
"gene_symbol": "TMEM126B",
"hgnc_id": 30883,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.401delA",
"hgvs_p": "p.Asn134fs"
}
],
"clinvar_disease": " nuclear type 29,Mitochondrial complex I deficiency,Mitochondrial disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 29|Mitochondrial disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}