← 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: 19-46755461-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755461&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46755461,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 161,
"cds_start": 11,
"cds_end": null,
"cds_length": 487,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000593902.1",
"protein_id": "ENSP00000470901.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 136,
"cds_start": 11,
"cds_end": null,
"cds_length": 411,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000600005.5",
"protein_id": "ENSP00000470335.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 113,
"cds_start": 11,
"cds_end": null,
"cds_length": 342,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000600227.5",
"protein_id": "ENSP00000468825.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 105,
"cds_start": 11,
"cds_end": null,
"cds_length": 318,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000593800.5",
"protein_id": "ENSP00000471209.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 100,
"cds_start": 11,
"cds_end": null,
"cds_length": 303,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000602181.5",
"protein_id": "ENSP00000472981.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 94,
"cds_start": 11,
"cds_end": null,
"cds_length": 287,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000593875.5",
"protein_id": "ENSP00000470297.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 85,
"cds_start": 11,
"cds_end": null,
"cds_length": 259,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000600629.5",
"protein_id": "ENSP00000470096.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 79,
"cds_start": 11,
"cds_end": null,
"cds_length": 240,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000600834.5",
"protein_id": "ENSP00000470024.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 71,
"cds_start": 11,
"cds_end": null,
"cds_length": 216,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000595868.5",
"protein_id": "ENSP00000471573.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 69,
"cds_start": 11,
"cds_end": null,
"cds_length": 210,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000596460.5",
"protein_id": "ENSP00000469373.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 67,
"cds_start": 11,
"cds_end": null,
"cds_length": 205,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000595570.5",
"protein_id": "ENSP00000470929.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 60,
"cds_start": 11,
"cds_end": null,
"cds_length": 184,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000597313.5",
"protein_id": "ENSP00000472370.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 58,
"cds_start": 11,
"cds_end": null,
"cds_length": 179,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000602250.5",
"protein_id": "ENSP00000472807.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 52,
"cds_start": 11,
"cds_end": null,
"cds_length": 160,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000598271.5",
"protein_id": "ENSP00000471088.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 28,
"cds_start": 11,
"cds_end": null,
"cds_length": 87,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_011527306.3",
"protein_id": "XP_011525608.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_024451707.2",
"protein_id": "XP_024307475.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439421.1",
"protein_id": "XP_047295377.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439422.1",
"protein_id": "XP_047295378.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439423.1",
"protein_id": "XP_047295379.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439424.1",
"protein_id": "XP_047295380.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439425.1",
"protein_id": "XP_047295381.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439426.1",
"protein_id": "XP_047295382.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439427.1",
"protein_id": "XP_047295383.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439428.1",
"protein_id": "XP_047295384.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "XM_047439429.1",
"protein_id": "XP_047295385.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 495,
"cds_start": 11,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser",
"transcript": "ENST00000593877.1",
"protein_id": "ENSP00000472850.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 3,
"cds_start": 11,
"cds_end": null,
"cds_length": 13,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-345-74C>G",
"hgvs_p": null,
"transcript": "ENST00000594467.5",
"protein_id": "ENSP00000471971.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.311-74C>G",
"hgvs_p": null,
"transcript": "ENST00000596974.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.247-6372C>G",
"hgvs_p": null,
"transcript": "ENST00000597339.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.247+6796C>G",
"hgvs_p": null,
"transcript": "ENST00000600646.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.*12C>G",
"hgvs_p": null,
"transcript": "ENST00000600977.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"dbsnp": "rs771333733",
"frequency_reference_population": 0.000071568684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000680596,
"gnomad_genomes_af": 0.000105097,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22905880212783813,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.443,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1466,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.79,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000318584.10",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Ser"
}
],
"clinvar_disease": " type A1, type A5,Autosomal recessive limb-girdle muscular dystrophy type 2I,Cardiovascular phenotype,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy type B5,Walker-Warburg congenital muscular dystrophy,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:11",
"phenotype_combined": "not provided|not specified|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}