← 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: 19-46756627-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46756627&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PP2",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -12,
"transcript": "NM_024301.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 546,
"alphamissense_prediction": null,
"alphamissense_score": 0.1428,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2I,Cardiovascular phenotype,FKRP-related disorder,Walker-Warburg congenital muscular dystrophy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:6 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010372072458267212,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024301.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318584.10",
"protein_coding": true,
"protein_id": "NP_077277.1",
"strand": true,
"transcript": "NM_024301.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000318584.10",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024301.5",
"protein_coding": true,
"protein_id": "ENSP00000326570.4",
"strand": true,
"transcript": "ENST00000318584.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001039885.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034974.1",
"strand": true,
"transcript": "NM_001039885.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391909.7",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375776.2",
"strand": true,
"transcript": "ENST00000391909.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000908841.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578900.1",
"strand": true,
"transcript": "ENST00000908841.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908842.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578901.1",
"strand": true,
"transcript": "ENST00000908842.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908843.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578902.1",
"strand": true,
"transcript": "ENST00000908843.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000908844.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578903.1",
"strand": true,
"transcript": "ENST00000908844.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908845.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578904.1",
"strand": true,
"transcript": "ENST00000908845.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000908846.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578905.1",
"strand": true,
"transcript": "ENST00000908846.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929288.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599347.1",
"strand": true,
"transcript": "ENST00000929288.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 2679,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929289.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599348.1",
"strand": true,
"transcript": "ENST00000929289.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929290.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599349.1",
"strand": true,
"transcript": "ENST00000929290.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929291.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599350.1",
"strand": true,
"transcript": "ENST00000929291.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4536,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962124.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632183.1",
"strand": true,
"transcript": "ENST00000962124.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962125.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632184.1",
"strand": true,
"transcript": "ENST00000962125.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962126.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632185.1",
"strand": true,
"transcript": "ENST00000962126.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962127.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632186.1",
"strand": true,
"transcript": "ENST00000962127.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005259247.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259304.1",
"strand": true,
"transcript": "XM_005259247.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3483,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005259248.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259305.1",
"strand": true,
"transcript": "XM_005259248.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005259249.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259306.1",
"strand": true,
"transcript": "XM_005259249.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011527306.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525608.1",
"strand": true,
"transcript": "XM_011527306.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527307.2",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525609.1",
"strand": true,
"transcript": "XM_011527307.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017027297.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882786.1",
"strand": true,
"transcript": "XM_017027297.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024451707.2",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307475.1",
"strand": true,
"transcript": "XM_024451707.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439421.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295377.1",
"strand": true,
"transcript": "XM_047439421.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3702,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439422.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295378.1",
"strand": true,
"transcript": "XM_047439422.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439423.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295379.1",
"strand": true,
"transcript": "XM_047439423.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439424.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295380.1",
"strand": true,
"transcript": "XM_047439424.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439425.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295381.1",
"strand": true,
"transcript": "XM_047439425.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439426.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295382.1",
"strand": true,
"transcript": "XM_047439426.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439427.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295383.1",
"strand": true,
"transcript": "XM_047439427.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3442,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439428.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295384.1",
"strand": true,
"transcript": "XM_047439428.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439429.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295385.1",
"strand": true,
"transcript": "XM_047439429.1",
"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": 420,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597339.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "n.247-5206G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000597339.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600646.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "n.247+7962G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600646.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140679502",
"effect": "missense_variant",
"frequency_reference_population": 0.00033850808,
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"gnomad_exomes_ac": 266,
"gnomad_exomes_af": 0.00018211,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 280,
"gnomad_genomes_af": 0.0018384,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Walker-Warburg congenital muscular dystrophy|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2I|FKRP-related disorder|Cardiovascular phenotype",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.69,
"pos": 46756627,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.656,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024301.5"
}
]
}