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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: 8-95045623-CTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=95045623&ref=CTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 95045623,
"ref": "CTTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000396124.9",
"consequences": [
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.557_559delTTT",
"hgvs_p": "p.Leu186_Tyr187delinsHis",
"transcript": "NM_152416.4",
"protein_id": "NP_689629.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 333,
"cds_start": 557,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "ENST00000396124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.557_559delTTT",
"hgvs_p": "p.Leu186_Tyr187delinsHis",
"transcript": "ENST00000396124.9",
"protein_id": "ENSP00000379430.4",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 333,
"cds_start": 557,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "NM_152416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.401_403delTTT",
"hgvs_p": "p.Leu134_Tyr135delinsHis",
"transcript": "NM_001354516.2",
"protein_id": "NP_001341445.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 281,
"cds_start": 401,
"cds_end": null,
"cds_length": 846,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "NM_001330582.2",
"protein_id": "NP_001317511.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "NM_001354514.2",
"protein_id": "NP_001341443.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "NM_001354515.2",
"protein_id": "NP_001341444.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "ENST00000396111.6",
"protein_id": "ENSP00000379417.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "ENST00000396113.5",
"protein_id": "ENSP00000379419.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "ENST00000697364.1",
"protein_id": "ENSP00000513278.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 241,
"cds_start": 281,
"cds_end": null,
"cds_length": 726,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.224_226delTTT",
"hgvs_p": "p.Leu75_Tyr76delinsHis",
"transcript": "NM_001354517.2",
"protein_id": "NP_001341446.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 222,
"cds_start": 224,
"cds_end": null,
"cds_length": 669,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.224_226delTTT",
"hgvs_p": "p.Leu75_Tyr76delinsHis",
"transcript": "NM_001354518.2",
"protein_id": "NP_001341447.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 222,
"cds_start": 224,
"cds_end": null,
"cds_length": 669,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.224_226delTTT",
"hgvs_p": "p.Leu75_Tyr76delinsHis",
"transcript": "NM_001354519.2",
"protein_id": "NP_001341448.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 222,
"cds_start": 224,
"cds_end": null,
"cds_length": 669,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.281_283delTTT",
"hgvs_p": "p.Leu94_Tyr95delinsHis",
"transcript": "NM_001354521.2",
"protein_id": "NP_001341450.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 222,
"cds_start": 281,
"cds_end": null,
"cds_length": 669,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354522.2",
"protein_id": "NP_001341451.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354524.2",
"protein_id": "NP_001341453.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354525.2",
"protein_id": "NP_001341454.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354527.2",
"protein_id": "NP_001341456.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354528.2",
"protein_id": "NP_001341457.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354529.2",
"protein_id": "NP_001341458.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354530.2",
"protein_id": "NP_001341459.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354531.2",
"protein_id": "NP_001341460.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 181,
"cds_start": 101,
"cds_end": null,
"cds_length": 546,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LY",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.101_103delTTT",
"hgvs_p": "p.Leu34_Tyr35delinsHis",
"transcript": "NM_001354532.2",
"protein_id": "NP_001341461.1",
"transcript_support_level": null,
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"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*351_*353delTTT",
"hgvs_p": null,
"transcript": "ENST00000519804.2",
"protein_id": "ENSP00000430230.2",
"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": 1147,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*498_*500delTTT",
"hgvs_p": null,
"transcript": "ENST00000520632.5",
"protein_id": "ENSP00000428666.1",
"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": 845,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*195_*197delTTT",
"hgvs_p": null,
"transcript": "ENST00000520757.1",
"protein_id": "ENSP00000430311.1",
"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": 1474,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*310_*312delTTT",
"hgvs_p": null,
"transcript": "ENST00000523337.5",
"protein_id": "ENSP00000429038.1",
"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": 796,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*327_*329delTTT",
"hgvs_p": null,
"transcript": "ENST00000697355.1",
"protein_id": "ENSP00000513277.1",
"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": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"dbsnp": "rs753367800",
"frequency_reference_population": 0.000011161891,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116399,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 6.998,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000396124.9",
"gene_symbol": "NDUFAF6",
"hgnc_id": 28625,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.557_559delTTT",
"hgvs_p": "p.Leu186_Tyr187delinsHis"
}
],
"clinvar_disease": "Developmental regression,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Developmental regression|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}