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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: 4-139295084-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=139295084&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 139295084,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002494.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184989.2",
"protein_id": "NP_001171918.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394223.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184989.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000394223.2",
"protein_id": "ENSP00000377770.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001184989.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394223.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000505036.5",
"protein_id": "ENSP00000421195.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505036.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184986.1",
"protein_id": "NP_001171915.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184986.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184987.1",
"protein_id": "NP_001171916.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184987.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184988.1",
"protein_id": "NP_001171917.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184988.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184990.1",
"protein_id": "NP_001171919.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184990.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001184991.1",
"protein_id": "NP_001171920.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184991.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_002494.3",
"protein_id": "NP_002485.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002494.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000394228.5",
"protein_id": "ENSP00000377775.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394228.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000539002.5",
"protein_id": "ENSP00000440133.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539002.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000539387.5",
"protein_id": "ENSP00000439882.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539387.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000544855.5",
"protein_id": "ENSP00000441126.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544855.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854294.1",
"protein_id": "ENSP00000524353.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854294.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854296.1",
"protein_id": "ENSP00000524355.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854296.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854297.1",
"protein_id": "ENSP00000524356.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854297.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854298.1",
"protein_id": "ENSP00000524357.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854298.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854299.1",
"protein_id": "ENSP00000524358.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854299.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854300.1",
"protein_id": "ENSP00000524359.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854300.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854301.1",
"protein_id": "ENSP00000524360.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854301.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854302.1",
"protein_id": "ENSP00000524361.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854302.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000854303.1",
"protein_id": "ENSP00000524362.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854303.1"
},
{
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"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000676245.1",
"protein_id": "ENSP00000502731.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 61,
"cds_start": 130,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.403G>A",
"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": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.421G>A",
"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": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.130G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503997.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"hgvs_c": "n.*34G>A",
"hgvs_p": null,
"transcript": "ENST00000513022.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000513022.5"
}
],
"gene_symbol": "NDUFC1",
"gene_hgnc_id": 7705,
"dbsnp": "rs752967937",
"frequency_reference_population": 0.000030977477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000307822,
"gnomad_genomes_af": 0.0000328532,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35064035654067993,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.2731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.298,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_002494.3",
"gene_symbol": "NDUFC1",
"hgnc_id": 7705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile"
}
],
"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
}