← Back to variant description
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: 15-41387470-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41387470&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41387470,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016013.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "NM_016013.4",
"protein_id": "NP_057097.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260361.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016013.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000260361.9",
"protein_id": "ENSP00000260361.4",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260361.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000853315.1",
"protein_id": "ENSP00000523374.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 355,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853315.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "NM_001437486.1",
"protein_id": "NP_001424415.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437486.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "NM_001437487.1",
"protein_id": "NP_001424416.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437487.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000560978.2",
"protein_id": "ENSP00000453944.2",
"transcript_support_level": 3,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560978.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853302.1",
"protein_id": "ENSP00000523361.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853302.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853303.1",
"protein_id": "ENSP00000523362.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853303.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853304.1",
"protein_id": "ENSP00000523363.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853304.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853306.1",
"protein_id": "ENSP00000523365.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853306.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853309.1",
"protein_id": "ENSP00000523368.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853309.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853310.1",
"protein_id": "ENSP00000523369.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853310.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853312.1",
"protein_id": "ENSP00000523371.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853312.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000853313.1",
"protein_id": "ENSP00000523372.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853313.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000928271.1",
"protein_id": "ENSP00000598330.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928271.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000928272.1",
"protein_id": "ENSP00000598331.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928272.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Glu318Lys",
"transcript": "ENST00000949842.1",
"protein_id": "ENSP00000619901.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 325,
"cds_start": 952,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949842.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "ENST00000853305.1",
"protein_id": "ENSP00000523364.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 302,
"cds_start": 883,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853305.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "ENST00000853308.1",
"protein_id": "ENSP00000523367.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 302,
"cds_start": 883,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853308.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "ENST00000928273.1",
"protein_id": "ENSP00000598332.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 302,
"cds_start": 883,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928273.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000853307.1",
"protein_id": "ENSP00000523366.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853307.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000853311.1",
"protein_id": "ENSP00000523370.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853311.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000853314.1",
"protein_id": "ENSP00000523373.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853314.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "ENST00000676906.1",
"protein_id": "ENSP00000503122.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 174,
"cds_start": 499,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676906.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "XM_047432637.1",
"protein_id": "XP_047288593.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 958,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "NM_001437488.1",
"protein_id": "NP_001424417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "NM_001437489.1",
"protein_id": "NP_001424418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "NM_001437490.1",
"protein_id": "NP_001424419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.*933G>A",
"hgvs_p": null,
"transcript": "ENST00000676533.1",
"protein_id": "ENSP00000504040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.*933G>A",
"hgvs_p": null,
"transcript": "ENST00000679094.1",
"protein_id": "ENSP00000504295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*266G>A",
"hgvs_p": null,
"transcript": "ENST00000678745.1",
"protein_id": "ENSP00000503632.1",
"transcript_support_level": null,
"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": "ENST00000678745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.1646G>A",
"hgvs_p": null,
"transcript": "NR_045620.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_045620.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.1183G>A",
"hgvs_p": null,
"transcript": "NR_199359.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_199359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.1486G>A",
"hgvs_p": null,
"transcript": "NR_199360.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_199360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*266G>A",
"hgvs_p": null,
"transcript": "ENST00000678745.1",
"protein_id": "ENSP00000503632.1",
"transcript_support_level": null,
"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": "ENST00000678745.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*426G>A",
"hgvs_p": null,
"transcript": "ENST00000559127.5",
"protein_id": "ENSP00000453027.1",
"transcript_support_level": 1,
"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": "ENST00000559127.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*426G>A",
"hgvs_p": null,
"transcript": "ENST00000678029.1",
"protein_id": "ENSP00000503887.1",
"transcript_support_level": null,
"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": "ENST00000678029.1"
}
],
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"dbsnp": "rs200394888",
"frequency_reference_population": 0.000101000966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 163,
"gnomad_exomes_af": 0.0000992088,
"gnomad_genomes_af": 0.000118202,
"gnomad_exomes_ac": 145,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02265763282775879,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0992,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.57,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016013.4",
"gene_symbol": "NDUFAF1",
"hgnc_id": 18828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}