← 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: 1-183577667-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183577667&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183577667,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000433.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "NM_000433.4",
"protein_id": "NP_000424.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367535.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000433.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000367535.8",
"protein_id": "ENSP00000356505.4",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000433.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367535.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000367536.5",
"protein_id": "ENSP00000356506.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367536.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946295.1",
"protein_id": "ENSP00000616354.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 591,
"cds_start": 298,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946295.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "NM_001127651.3",
"protein_id": "NP_001121123.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127651.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000697330.1",
"protein_id": "ENSP00000513258.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697330.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946289.1",
"protein_id": "ENSP00000616348.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946289.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946290.1",
"protein_id": "ENSP00000616349.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946290.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000873218.1",
"protein_id": "ENSP00000543277.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 525,
"cds_start": 298,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873218.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946291.1",
"protein_id": "ENSP00000616350.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 524,
"cds_start": 298,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946291.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946294.1",
"protein_id": "ENSP00000616353.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 503,
"cds_start": 298,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946294.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946292.1",
"protein_id": "ENSP00000616351.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 492,
"cds_start": 298,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946292.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "NM_001410895.1",
"protein_id": "NP_001397824.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 490,
"cds_start": 298,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410895.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000697351.1",
"protein_id": "ENSP00000513276.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 490,
"cds_start": 298,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697351.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000873217.1",
"protein_id": "ENSP00000543276.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 490,
"cds_start": 298,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873217.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "NM_001190794.2",
"protein_id": "NP_001177723.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 481,
"cds_start": 298,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190794.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000413720.5",
"protein_id": "ENSP00000399294.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 481,
"cds_start": 298,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413720.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000946293.1",
"protein_id": "ENSP00000616352.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 447,
"cds_start": 298,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946293.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "NM_001190789.2",
"protein_id": "NP_001177718.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 445,
"cds_start": 298,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190789.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "ENST00000418089.5",
"protein_id": "ENSP00000407217.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 445,
"cds_start": 298,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418089.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_011509580.2",
"protein_id": "XP_011507882.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509580.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_011509581.2",
"protein_id": "XP_011507883.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509581.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_047421222.1",
"protein_id": "XP_047277178.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 526,
"cds_start": 298,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421222.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_005245207.2",
"protein_id": "XP_005245264.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 490,
"cds_start": 298,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245207.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_047421231.1",
"protein_id": "XP_047277187.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 296,
"cds_start": 298,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421231.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu",
"transcript": "XM_047421238.1",
"protein_id": "XP_047277194.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 292,
"cds_start": 298,
"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": "XM_047421238.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.218C>G",
"hgvs_p": null,
"transcript": "ENST00000697329.1",
"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": "ENST00000697329.1"
},
{
"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": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.398C>G",
"hgvs_p": null,
"transcript": "ENST00000697352.1",
"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": "ENST00000697352.1"
},
{
"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": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.411C>G",
"hgvs_p": null,
"transcript": "ENST00000697353.1",
"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": "ENST00000697353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "n.234-20102G>C",
"hgvs_p": null,
"transcript": "ENST00000495321.1",
"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": "ENST00000495321.1"
}
],
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"dbsnp": "rs119103276",
"frequency_reference_population": 0.00064123457,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1035,
"gnomad_exomes_af": 0.000671794,
"gnomad_genomes_af": 0.000347961,
"gnomad_exomes_ac": 982,
"gnomad_genomes_ac": 53,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010033726692199707,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.384,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000433.4",
"gene_symbol": "NCF2",
"hgnc_id": 7661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Gln100Glu"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000495321.1",
"gene_symbol": "SMG7",
"hgnc_id": 16792,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.234-20102G>C",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, chronic, cytochrome b-positive, type 2,Granulomatous disease",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}