← 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: 1-15341792-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15341792&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FHAD1",
"hgnc_id": 29408,
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Gly655Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_052929.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FHAD1-AS1",
"hgnc_id": 41241,
"hgvs_c": "n.101+1984C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000428747.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EFHD2-AS1",
"hgnc_id": 55801,
"hgvs_c": "n.346-17296C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000774218.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1468,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2295619249343872,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5542,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001391957.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688493.1",
"protein_coding": true,
"protein_id": "NP_001378886.1",
"strand": true,
"transcript": "NM_001391957.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5542,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000688493.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001391957.1",
"protein_coding": true,
"protein_id": "ENSP00000509124.1",
"strand": true,
"transcript": "ENST00000688493.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000471347.5",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "n.500G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000471347.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "G",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 4239,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_052929.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Gly655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443161.1",
"strand": true,
"transcript": "NM_052929.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "G",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 4239,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000358897.8",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Gly655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351770.4",
"strand": true,
"transcript": "ENST00000358897.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "G",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 4239,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000375998.8",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Gly655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365166.4",
"strand": true,
"transcript": "ENST00000375998.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "G",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_024452918.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2014G>C",
"hgvs_p": "p.Gly672Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308686.1",
"strand": true,
"transcript": "XM_024452918.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 783,
"aa_ref": "G",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011540598.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2014G>C",
"hgvs_p": "p.Gly672Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538900.1",
"strand": true,
"transcript": "XM_011540598.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 766,
"aa_ref": "G",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047443847.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Gly655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299803.1",
"strand": true,
"transcript": "XM_047443847.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5610,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683790.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506973.1",
"strand": true,
"transcript": "ENST00000683790.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000968213.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638272.1",
"strand": true,
"transcript": "ENST00000968213.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 4194,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000940095.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610154.1",
"strand": true,
"transcript": "ENST00000940095.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 32,
"cds_end": null,
"cds_length": 2079,
"cds_start": 30,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000444385.5",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.30G>C",
"hgvs_p": "p.Arg10Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399819.1",
"strand": true,
"transcript": "ENST00000444385.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4596,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000198.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855687.1",
"strand": true,
"transcript": "XM_017000198.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4596,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000199.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855688.1",
"strand": true,
"transcript": "XM_017000199.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5182,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4593,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540576.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538878.1",
"strand": true,
"transcript": "XM_011540576.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 4545,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540577.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2034G>C",
"hgvs_p": "p.Arg678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538879.1",
"strand": true,
"transcript": "XM_011540577.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4542,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000200.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855689.1",
"strand": true,
"transcript": "XM_017000200.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1508,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4527,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000201.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855690.1",
"strand": true,
"transcript": "XM_017000201.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4491,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540581.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538883.1",
"strand": true,
"transcript": "XM_011540581.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4491,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540582.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538884.1",
"strand": true,
"transcript": "XM_011540582.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6987,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4491,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443734.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299690.1",
"strand": true,
"transcript": "XM_047443734.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 4488,
"cds_start": 1977,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017000202.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1977G>C",
"hgvs_p": "p.Arg659Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855691.1",
"strand": true,
"transcript": "XM_017000202.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4479,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540584.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538886.1",
"strand": true,
"transcript": "XM_011540584.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4437,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000203.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855692.1",
"strand": true,
"transcript": "XM_017000203.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "R",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5009,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 4437,
"cds_start": 1926,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047443737.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1926G>C",
"hgvs_p": "p.Arg642Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299693.1",
"strand": true,
"transcript": "XM_047443737.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024452887.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308655.1",
"strand": true,
"transcript": "XM_024452887.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1468,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5526,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4407,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443743.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299699.1",
"strand": true,
"transcript": "XM_047443743.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "R",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 4401,
"cds_start": 1890,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017000205.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1890G>C",
"hgvs_p": "p.Arg630Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855694.1",
"strand": true,
"transcript": "XM_017000205.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4392,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000206.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855695.1",
"strand": true,
"transcript": "XM_017000206.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "R",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 4359,
"cds_start": 1848,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017000207.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1848G>C",
"hgvs_p": "p.Arg616Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855696.1",
"strand": true,
"transcript": "XM_017000207.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540588.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538890.1",
"strand": true,
"transcript": "XM_011540588.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443774.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299730.1",
"strand": true,
"transcript": "XM_047443774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5687,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443776.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299732.1",
"strand": true,
"transcript": "XM_047443776.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1445,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4910,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 4338,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_024452898.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1827G>C",
"hgvs_p": "p.Arg609Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308666.1",
"strand": true,
"transcript": "XM_024452898.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443790.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299746.1",
"strand": true,
"transcript": "XM_047443790.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4278,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024452903.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308671.1",
"strand": true,
"transcript": "XM_024452903.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5719,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4278,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024452912.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308680.1",
"strand": true,
"transcript": "XM_024452912.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4278,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047443798.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299754.1",
"strand": true,
"transcript": "XM_047443798.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1420,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4263,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000210.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855699.1",
"strand": true,
"transcript": "XM_017000210.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "R",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 4257,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011540592.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1746G>C",
"hgvs_p": "p.Arg582Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538894.1",
"strand": true,
"transcript": "XM_011540592.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "R",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 4248,
"cds_start": 1977,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047443801.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1977G>C",
"hgvs_p": "p.Arg659Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299757.1",
"strand": true,
"transcript": "XM_047443801.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5364,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4245,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000211.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855700.1",
"strand": true,
"transcript": "XM_017000211.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 4242,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000212.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855701.1",
"strand": true,
"transcript": "XM_017000212.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 3963,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011540595.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Arg484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538897.1",
"strand": true,
"transcript": "XM_011540595.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 3420,
"cds_start": 1152,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047443835.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1152G>C",
"hgvs_p": "p.Arg384Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299791.1",
"strand": true,
"transcript": "XM_047443835.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 3273,
"cds_start": 762,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011540596.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.762G>C",
"hgvs_p": "p.Arg254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538898.2",
"strand": true,
"transcript": "XM_011540596.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011540597.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538899.1",
"strand": true,
"transcript": "XM_011540597.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000213.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855702.1",
"strand": true,
"transcript": "XM_017000213.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017000214.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2085G>C",
"hgvs_p": "p.Arg695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855703.1",
"strand": true,
"transcript": "XM_017000214.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 770,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047443846.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.1827G>C",
"hgvs_p": "p.Arg609Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299802.1",
"strand": true,
"transcript": "XM_047443846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428747.1",
"gene_hgnc_id": 41241,
"gene_symbol": "FHAD1-AS1",
"hgvs_c": "n.101+1984C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000428747.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774027.1",
"gene_hgnc_id": 41241,
"gene_symbol": "FHAD1-AS1",
"hgvs_c": "n.115+1984C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774027.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774028.1",
"gene_hgnc_id": 41241,
"gene_symbol": "FHAD1-AS1",
"hgvs_c": "n.108+1984C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774218.1",
"gene_hgnc_id": 55801,
"gene_symbol": "EFHD2-AS1",
"hgvs_c": "n.346-17296C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_148918.1",
"gene_hgnc_id": 41241,
"gene_symbol": "FHAD1-AS1",
"hgvs_c": "n.108+1984C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_148918.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_148919.1",
"gene_hgnc_id": 41241,
"gene_symbol": "FHAD1-AS1",
"hgvs_c": "n.108+1984C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_148919.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.765,
"pos": 15341792,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.088,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_052929.2"
}
]
}