← 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: 6-75914152-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75914152&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PP3",
"BP4",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO6",
"hgnc_id": 7605,
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Arg1186Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_001368865.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4,BP6,BS1",
"acmg_score": -5,
"allele_count_reference_population": 183,
"alphamissense_prediction": null,
"alphamissense_score": 0.7111,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.363807737827301,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_004999.4",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369977.8",
"protein_coding": true,
"protein_id": "NP_004990.3",
"strand": true,
"transcript": "NM_004999.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000369977.8",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004999.4",
"protein_coding": true,
"protein_id": "ENSP00000358994.3",
"strand": true,
"transcript": "ENST00000369977.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4026,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000615563.4",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3460C>T",
"hgvs_p": "p.Arg1154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478013.1",
"strand": true,
"transcript": "ENST00000615563.4",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8642,
"cdna_start": 3788,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001368865.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Arg1186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355794.1",
"strand": true,
"transcript": "NM_001368865.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8642,
"cdna_start": 3788,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000664640.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Arg1186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499278.1",
"strand": true,
"transcript": "ENST00000664640.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001368866.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355795.1",
"strand": true,
"transcript": "NM_001368866.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 3529,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000672093.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500710.1",
"strand": true,
"transcript": "ENST00000672093.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 3808,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000947981.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618040.1",
"strand": true,
"transcript": "ENST00000947981.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "R",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 3755,
"cds_end": null,
"cds_length": 3831,
"cds_start": 3502,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000927896.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597955.1",
"strand": true,
"transcript": "ENST00000927896.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 3828,
"cds_start": 3499,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000927895.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3499C>T",
"hgvs_p": "p.Arg1167Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597954.1",
"strand": true,
"transcript": "ENST00000927895.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "R",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8576,
"cdna_start": 3722,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3490,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001368137.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355066.1",
"strand": true,
"transcript": "NM_001368137.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "R",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5216,
"cdna_start": 3672,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3490,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000947980.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618039.1",
"strand": true,
"transcript": "ENST00000947980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5698,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3472,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000927894.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3472C>T",
"hgvs_p": "p.Arg1158Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597953.1",
"strand": true,
"transcript": "ENST00000927894.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "R",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8572,
"cdna_start": 3724,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3463,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000927893.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597952.1",
"strand": true,
"transcript": "ENST00000927893.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8546,
"cdna_start": 3692,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001300899.2",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3460C>T",
"hgvs_p": "p.Arg1154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287828.1",
"strand": true,
"transcript": "NM_001300899.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8546,
"cdna_start": 3692,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000369985.9",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3460C>T",
"hgvs_p": "p.Arg1154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359002.3",
"strand": true,
"transcript": "ENST00000369985.9",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "R",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8531,
"cdna_start": 3677,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3445,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001368138.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3445C>T",
"hgvs_p": "p.Arg1149Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355067.1",
"strand": true,
"transcript": "NM_001368138.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001368136.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355065.1",
"strand": true,
"transcript": "NM_001368136.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000369975.6",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358992.1",
"strand": true,
"transcript": "ENST00000369975.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5194,
"cdna_start": 3646,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000927897.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597956.1",
"strand": true,
"transcript": "ENST00000927897.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": 3108,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3094,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000947982.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3094C>T",
"hgvs_p": "p.Arg1032Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618041.1",
"strand": true,
"transcript": "ENST00000947982.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8542,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_024446447.2",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Arg1186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302215.1",
"strand": true,
"transcript": "XM_024446447.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "R",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8603,
"cdna_start": 3749,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3517,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_005248721.5",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3517C>T",
"hgvs_p": "p.Arg1173Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248778.1",
"strand": true,
"transcript": "XM_005248721.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "R",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 3734,
"cds_end": null,
"cds_length": 3831,
"cds_start": 3502,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005248722.5",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248779.1",
"strand": true,
"transcript": "XM_005248722.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "R",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8576,
"cdna_start": 3722,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3490,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005248724.5",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248781.1",
"strand": true,
"transcript": "XM_005248724.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "R",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8549,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3463,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017010899.3",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866388.1",
"strand": true,
"transcript": "XM_017010899.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 3565,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047418836.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "c.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274792.1",
"strand": true,
"transcript": "XM_047418836.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000671923.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "n.*1540C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500835.1",
"strand": true,
"transcript": "ENST00000671923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000672162.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "n.1695C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000672162.1",
"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": 8612,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NR_160538.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "n.3758C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_160538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000671923.1",
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"hgvs_c": "n.*1540C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500835.1",
"strand": true,
"transcript": "ENST00000671923.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146419641",
"effect": "missense_variant",
"frequency_reference_population": 0.0001133784,
"gene_hgnc_id": 7605,
"gene_symbol": "MYO6",
"gnomad_exomes_ac": 95,
"gnomad_exomes_af": 0.0000649845,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 88,
"gnomad_genomes_af": 0.00057827,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.815,
"pos": 75914152,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.715,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001368865.1"
}
]
}