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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: 2-240022311-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240022311&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240022311,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000252711.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "NM_004544.4",
"protein_id": "NP_004535.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 355,
"cds_start": 105,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000252711.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000252711.7",
"protein_id": "ENSP00000252711.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 355,
"cds_start": 105,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_004544.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000307300.8",
"protein_id": "ENSP00000302321.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 429,
"cds_start": 105,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000407129.3",
"protein_id": "ENSP00000383975.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 201,
"cds_start": 105,
"cds_end": null,
"cds_length": 606,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000677567.1",
"protein_id": "ENSP00000503217.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 393,
"cds_start": 105,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000404554.5",
"protein_id": "ENSP00000385697.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 390,
"cds_start": 105,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000678289.1",
"protein_id": "ENSP00000504063.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 388,
"cds_start": 105,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "NM_001322019.2",
"protein_id": "NP_001308948.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 375,
"cds_start": 105,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000448880.6",
"protein_id": "ENSP00000408224.2",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 375,
"cds_start": 105,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000620965.5",
"protein_id": "ENSP00000480897.2",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 371,
"cds_start": 105,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "NM_001410987.1",
"protein_id": "NP_001397916.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 362,
"cds_start": 105,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000444548.6",
"protein_id": "ENSP00000403080.2",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 362,
"cds_start": 105,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000676491.1",
"protein_id": "ENSP00000504528.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 361,
"cds_start": 105,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000676782.1",
"protein_id": "ENSP00000504717.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 358,
"cds_start": 105,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.102A>G",
"hgvs_p": "p.Lys34Lys",
"transcript": "ENST00000678455.1",
"protein_id": "ENSP00000504395.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 354,
"cds_start": 102,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000678737.1",
"protein_id": "ENSP00000503770.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 345,
"cds_start": 105,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000677407.1",
"protein_id": "ENSP00000503141.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 344,
"cds_start": 105,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000677263.1",
"protein_id": "ENSP00000503790.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 339,
"cds_start": 105,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000678914.1",
"protein_id": "ENSP00000504515.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 321,
"cds_start": 105,
"cds_end": null,
"cds_length": 966,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "NM_001322020.2",
"protein_id": "NP_001308949.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 317,
"cds_start": 105,
"cds_end": null,
"cds_length": 954,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000679158.1",
"protein_id": "ENSP00000503837.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 317,
"cds_start": 105,
"cds_end": null,
"cds_length": 954,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000677294.1",
"protein_id": "ENSP00000503461.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 297,
"cds_start": 105,
"cds_end": null,
"cds_length": 894,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.105A>G",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"exon_rank": 2,
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"exon_count": 8,
"intron_rank": null,
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},
{
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"consequences": [
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"exon_count": 11,
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},
{
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"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "NDUFA10",
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"transcript": "ENST00000414580.2",
"protein_id": "ENSP00000388413.2",
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{
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"consequences": [
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"exon_count": 9,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "n.76-899A>G",
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"transcript": "ENST00000678832.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "NDUFA10",
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"hgvs_c": "n.117-899A>G",
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"transcript": "NR_136157.2",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"dbsnp": "rs2083411",
"frequency_reference_population": 0.6624016,
"hom_count_reference_population": 356051,
"allele_count_reference_population": 1068948,
"gnomad_exomes_af": 0.65871,
"gnomad_genomes_af": 0.6979,
"gnomad_exomes_ac": 962856,
"gnomad_genomes_ac": 106092,
"gnomad_exomes_homalt": 318674,
"gnomad_genomes_homalt": 37377,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.111,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000252711.7",
"gene_symbol": "NDUFA10",
"hgnc_id": 7684,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.105A>G",
"hgvs_p": "p.Lys35Lys"
}
],
"clinvar_disease": " nuclear type 1, nuclear type 22,Leigh syndrome,Mitochondrial complex I deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Mitochondrial complex I deficiency, nuclear type 22",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}