← 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: 4-139292563-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=139292563&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 139292563,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002494.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184989.2",
"protein_id": "NP_001171918.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 696,
"mane_select": "ENST00000394223.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184989.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000394223.2",
"protein_id": "ENSP00000377770.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 696,
"mane_select": "NM_001184989.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394223.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000505036.5",
"protein_id": "ENSP00000421195.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505036.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184986.1",
"protein_id": "NP_001171915.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184986.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184987.1",
"protein_id": "NP_001171916.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184987.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184988.1",
"protein_id": "NP_001171917.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184988.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184990.1",
"protein_id": "NP_001171919.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184990.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_001184991.1",
"protein_id": "NP_001171920.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184991.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "NM_002494.3",
"protein_id": "NP_002485.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002494.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000394228.5",
"protein_id": "ENSP00000377775.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394228.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000539002.5",
"protein_id": "ENSP00000440133.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539002.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000539387.5",
"protein_id": "ENSP00000439882.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539387.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000544855.5",
"protein_id": "ENSP00000441126.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544855.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854294.1",
"protein_id": "ENSP00000524353.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854294.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854296.1",
"protein_id": "ENSP00000524355.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854296.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854297.1",
"protein_id": "ENSP00000524356.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854297.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854298.1",
"protein_id": "ENSP00000524357.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854298.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854299.1",
"protein_id": "ENSP00000524358.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854299.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854300.1",
"protein_id": "ENSP00000524359.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854300.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854301.1",
"protein_id": "ENSP00000524360.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854301.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854302.1",
"protein_id": "ENSP00000524361.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854302.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854303.1",
"protein_id": "ENSP00000524362.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854303.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854304.1",
"protein_id": "ENSP00000524363.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854304.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854305.1",
"protein_id": "ENSP00000524364.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854305.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854306.1",
"protein_id": "ENSP00000524365.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854306.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854307.1",
"protein_id": "ENSP00000524366.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854307.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854308.1",
"protein_id": "ENSP00000524367.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854308.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854309.1",
"protein_id": "ENSP00000524368.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854309.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854310.1",
"protein_id": "ENSP00000524369.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854310.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854311.1",
"protein_id": "ENSP00000524370.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854311.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854312.1",
"protein_id": "ENSP00000524371.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854312.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854313.1",
"protein_id": "ENSP00000524372.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854313.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854314.1",
"protein_id": "ENSP00000524373.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854314.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854315.1",
"protein_id": "ENSP00000524374.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854315.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854316.1",
"protein_id": "ENSP00000524375.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854316.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000854318.1",
"protein_id": "ENSP00000524377.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854318.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920493.1",
"protein_id": "ENSP00000590552.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920493.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920494.1",
"protein_id": "ENSP00000590553.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920494.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920495.1",
"protein_id": "ENSP00000590554.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920495.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920497.1",
"protein_id": "ENSP00000590556.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920497.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920498.1",
"protein_id": "ENSP00000590557.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920498.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920499.1",
"protein_id": "ENSP00000590558.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920499.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920500.1",
"protein_id": "ENSP00000590559.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920500.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920501.1",
"protein_id": "ENSP00000590560.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920501.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920502.1",
"protein_id": "ENSP00000590561.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920502.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920503.1",
"protein_id": "ENSP00000590562.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920503.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920504.1",
"protein_id": "ENSP00000590563.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920504.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920505.1",
"protein_id": "ENSP00000590564.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920505.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920506.1",
"protein_id": "ENSP00000590565.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920506.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920507.1",
"protein_id": "ENSP00000590566.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920507.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920508.1",
"protein_id": "ENSP00000590567.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920508.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920509.1",
"protein_id": "ENSP00000590568.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920509.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920510.1",
"protein_id": "ENSP00000590569.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920510.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920511.1",
"protein_id": "ENSP00000590570.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920511.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920512.1",
"protein_id": "ENSP00000590571.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920512.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920513.1",
"protein_id": "ENSP00000590572.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920513.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920514.1",
"protein_id": "ENSP00000590573.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920514.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000920515.1",
"protein_id": "ENSP00000590574.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920515.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959733.1",
"protein_id": "ENSP00000629792.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959733.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959734.1",
"protein_id": "ENSP00000629793.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959734.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959735.1",
"protein_id": "ENSP00000629794.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959735.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959736.1",
"protein_id": "ENSP00000629795.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959736.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959737.1",
"protein_id": "ENSP00000629796.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959737.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser",
"transcript": "ENST00000959738.1",
"protein_id": "ENSP00000629797.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 76,
"cds_start": 218,
"cds_end": null,
"cds_length": 231,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959738.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "ENST00000854295.1",
"protein_id": "ENSP00000524354.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 74,
"cds_start": 212,
"cds_end": null,
"cds_length": 225,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854295.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "ENST00000854317.1",
"protein_id": "ENSP00000524376.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 74,
"cds_start": 212,
"cds_end": null,
"cds_length": 225,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854317.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "ENST00000920492.1",
"protein_id": "ENSP00000590551.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 74,
"cds_start": 212,
"cds_end": null,
"cds_length": 225,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920492.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "ENST00000920496.1",
"protein_id": "ENSP00000590555.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 74,
"cds_start": 212,
"cds_end": null,
"cds_length": 225,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.172-2471A>G",
"hgvs_p": null,
"transcript": "ENST00000676245.1",
"protein_id": "ENSP00000502731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.491A>G",
"hgvs_p": null,
"transcript": "ENST00000394225.6",
"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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000394225.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.509A>G",
"hgvs_p": null,
"transcript": "ENST00000503453.5",
"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": 682,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503453.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.218A>G",
"hgvs_p": null,
"transcript": "ENST00000503997.5",
"protein_id": "ENSP00000425882.1",
"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": 628,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503997.5"
}
],
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"dbsnp": null,
"frequency_reference_population": 7.082805e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.08281e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26619935035705566,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.2838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.649,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002494.3",
"gene_symbol": "NDUFC1",
"hgnc_id": 7705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asn73Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}