← 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: 1-15328368-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15328368&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15328368,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001391957.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "NM_001391957.1",
"protein_id": "NP_001378886.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1479,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000688493.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391957.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000688493.1",
"protein_id": "ENSP00000509124.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1479,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001391957.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "n.115C>G",
"hgvs_p": null,
"transcript": "ENST00000471347.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471347.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000683790.1",
"protein_id": "ENSP00000506973.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1479,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683790.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000968213.1",
"protein_id": "ENSP00000638272.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1433,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968213.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "NM_052929.2",
"protein_id": "NP_443161.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1412,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052929.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000358897.8",
"protein_id": "ENSP00000351770.4",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 1412,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358897.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000375998.8",
"protein_id": "ENSP00000365166.4",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 1412,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375998.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "ENST00000940095.1",
"protein_id": "ENSP00000610154.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1397,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940095.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Ser220Cys",
"transcript": "ENST00000375997.8",
"protein_id": "ENSP00000365165.5",
"transcript_support_level": 3,
"aa_start": 220,
"aa_end": null,
"aa_length": 316,
"cds_start": 659,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375997.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.464C>G",
"hgvs_p": "p.Ser155Cys",
"transcript": "ENST00000375995.3",
"protein_id": "ENSP00000365163.3",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 251,
"cds_start": 464,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375995.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.299C>G",
"hgvs_p": "p.Ser100Cys",
"transcript": "ENST00000524761.5",
"protein_id": "ENSP00000436559.2",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 119,
"cds_start": 299,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524761.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000198.3",
"protein_id": "XP_016855687.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000198.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000199.3",
"protein_id": "XP_016855688.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000199.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540576.3",
"protein_id": "XP_011538878.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1530,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540576.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "XM_011540577.3",
"protein_id": "XP_011538879.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1514,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540577.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000200.2",
"protein_id": "XP_016855689.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000200.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000201.2",
"protein_id": "XP_016855690.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1508,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000201.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540581.4",
"protein_id": "XP_011538883.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540581.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540582.4",
"protein_id": "XP_011538884.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540582.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443734.1",
"protein_id": "XP_047299690.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443734.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1592C>G",
"hgvs_p": "p.Ser531Cys",
"transcript": "XM_017000202.2",
"protein_id": "XP_016855691.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1495,
"cds_start": 1592,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000202.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540584.4",
"protein_id": "XP_011538886.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1492,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540584.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000203.3",
"protein_id": "XP_016855692.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1478,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000203.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Ser514Cys",
"transcript": "XM_047443737.1",
"protein_id": "XP_047299693.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 1478,
"cds_start": 1541,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443737.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_024452887.2",
"protein_id": "XP_024308655.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1469,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452887.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443743.1",
"protein_id": "XP_047299699.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1468,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443743.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Ser502Cys",
"transcript": "XM_017000205.2",
"protein_id": "XP_016855694.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1466,
"cds_start": 1505,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000205.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000206.3",
"protein_id": "XP_016855695.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000206.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Ser488Cys",
"transcript": "XM_017000207.3",
"protein_id": "XP_016855696.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1463,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000207.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540588.4",
"protein_id": "XP_011538890.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1451,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540588.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443774.1",
"protein_id": "XP_047299730.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1450,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443774.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443776.1",
"protein_id": "XP_047299732.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1448,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443776.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Ser481Cys",
"transcript": "XM_024452898.2",
"protein_id": "XP_024308666.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 1445,
"cds_start": 1442,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452898.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443790.1",
"protein_id": "XP_047299746.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1433,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443790.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_024452918.2",
"protein_id": "XP_024308686.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1429,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452918.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_024452903.2",
"protein_id": "XP_024308671.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1425,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452903.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_024452912.2",
"protein_id": "XP_024308680.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1425,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452912.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_047443798.1",
"protein_id": "XP_047299754.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1425,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443798.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000210.3",
"protein_id": "XP_016855699.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1420,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000210.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Cys",
"transcript": "XM_011540592.2",
"protein_id": "XP_011538894.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1418,
"cds_start": 1361,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540592.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1592C>G",
"hgvs_p": "p.Ser531Cys",
"transcript": "XM_047443801.1",
"protein_id": "XP_047299757.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1415,
"cds_start": 1592,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443801.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000211.3",
"protein_id": "XP_016855700.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1414,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000211.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000212.3",
"protein_id": "XP_016855701.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1413,
"cds_start": 1700,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000212.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Ser356Cys",
"transcript": "XM_011540595.2",
"protein_id": "XP_011538897.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540595.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Ser256Cys",
"transcript": "XM_047443835.1",
"protein_id": "XP_047299791.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1139,
"cds_start": 767,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443835.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.377C>G",
"hgvs_p": "p.Ser126Cys",
"transcript": "XM_011540596.3",
"protein_id": "XP_011538898.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1090,
"cds_start": 377,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540596.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540597.4",
"protein_id": "XP_011538899.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540597.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000213.2",
"protein_id": "XP_016855702.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000213.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_017000214.3",
"protein_id": "XP_016855703.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000214.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Ser567Cys",
"transcript": "XM_011540598.4",
"protein_id": "XP_011538900.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 783,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540598.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Ser481Cys",
"transcript": "XM_047443846.1",
"protein_id": "XP_047299802.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 770,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443846.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys",
"transcript": "XM_047443847.1",
"protein_id": "XP_047299803.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 766,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "n.793C>G",
"hgvs_p": null,
"transcript": "ENST00000375996.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000375996.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1-AS1",
"gene_hgnc_id": 41241,
"hgvs_c": "n.1417G>C",
"hgvs_p": null,
"transcript": "ENST00000428747.1",
"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": "ENST00000428747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "n.2766C>G",
"hgvs_p": null,
"transcript": "ENST00000459961.1",
"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": "retained_intron",
"feature": "ENST00000459961.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "n.418C>G",
"hgvs_p": null,
"transcript": "ENST00000472131.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000472131.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1-AS1",
"gene_hgnc_id": 41241,
"hgvs_c": "n.1424G>C",
"hgvs_p": null,
"transcript": "NR_148918.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148918.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1-AS1",
"gene_hgnc_id": 41241,
"hgvs_c": "n.1421G>C",
"hgvs_p": null,
"transcript": "NR_148919.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFHD2-AS1",
"gene_hgnc_id": 55801,
"hgvs_c": "n.346-3872G>C",
"hgvs_p": null,
"transcript": "ENST00000774218.1",
"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": "ENST00000774218.1"
}
],
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"dbsnp": "rs1163164780",
"frequency_reference_population": 7.3678393e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.36784e-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": 0.06042715907096863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.408,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001391957.1",
"gene_symbol": "FHAD1",
"hgnc_id": 29408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Ser550Cys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000428747.1",
"gene_symbol": "FHAD1-AS1",
"hgnc_id": 41241,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1417G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000774218.1",
"gene_symbol": "EFHD2-AS1",
"hgnc_id": 55801,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.346-3872G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}