← 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: 6-75817574-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75817574&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75817574,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004999.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_004999.4",
"protein_id": "NP_004990.3",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1285,
"cds_start": 27,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "ENST00000369977.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000369977.8",
"protein_id": "ENSP00000358994.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1285,
"cds_start": 27,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "NM_004999.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000615563.4",
"protein_id": "ENSP00000478013.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1262,
"cds_start": 27,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 59,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368865.1",
"protein_id": "NP_001355794.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1294,
"cds_start": 27,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000664640.1",
"protein_id": "ENSP00000499278.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1294,
"cds_start": 27,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368866.1",
"protein_id": "NP_001355795.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1285,
"cds_start": 27,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000672093.1",
"protein_id": "ENSP00000500710.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1285,
"cds_start": 27,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368137.1",
"protein_id": "NP_001355066.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1272,
"cds_start": 27,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001300899.2",
"protein_id": "NP_001287828.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1262,
"cds_start": 27,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000369985.9",
"protein_id": "ENSP00000359002.3",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 1262,
"cds_start": 27,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368138.1",
"protein_id": "NP_001355067.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1257,
"cds_start": 27,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368136.1",
"protein_id": "NP_001355065.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1253,
"cds_start": 27,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000369975.6",
"protein_id": "ENSP00000358992.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 1253,
"cds_start": 27,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000627432.3",
"protein_id": "ENSP00000487348.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 961,
"cds_start": 27,
"cds_end": null,
"cds_length": 2887,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000662603.1",
"protein_id": "ENSP00000499324.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 925,
"cds_start": 27,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000664209.1",
"protein_id": "ENSP00000499768.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 923,
"cds_start": 27,
"cds_end": null,
"cds_length": 2773,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000653423.1",
"protein_id": "ENSP00000499696.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 877,
"cds_start": 27,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368139.1",
"protein_id": "NP_001355068.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 281,
"cds_start": 27,
"cds_end": null,
"cds_length": 846,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001368140.1",
"protein_id": "NP_001355069.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 281,
"cds_start": 27,
"cds_end": null,
"cds_length": 846,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_024446447.2",
"protein_id": "XP_024302215.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1294,
"cds_start": 27,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 8542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_005248721.5",
"protein_id": "XP_005248778.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1281,
"cds_start": 27,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_005248722.5",
"protein_id": "XP_005248779.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1276,
"cds_start": 27,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_005248724.5",
"protein_id": "XP_005248781.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1272,
"cds_start": 27,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_017010899.3",
"protein_id": "XP_016866388.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1263,
"cds_start": 27,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "XM_047418836.1",
"protein_id": "XP_047274792.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1253,
"cds_start": 27,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000462633.3",
"protein_id": "ENSP00000499616.2",
"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": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000653917.1",
"protein_id": "ENSP00000499623.1",
"transcript_support_level": null,
"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": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000660420.1",
"protein_id": "ENSP00000499263.1",
"transcript_support_level": null,
"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": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000662184.1",
"protein_id": "ENSP00000499732.1",
"transcript_support_level": null,
"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": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000663400.1",
"protein_id": "ENSP00000499736.1",
"transcript_support_level": null,
"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": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000671923.1",
"protein_id": "ENSP00000500835.1",
"transcript_support_level": null,
"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": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.259G>A",
"hgvs_p": null,
"transcript": "NR_160538.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.259G>A",
"hgvs_p": null,
"transcript": "NR_160539.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"dbsnp": "rs767670766",
"frequency_reference_population": 0.000021889802,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000218898,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.024,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_004999.4",
"gene_symbol": "MYO6",
"hgnc_id": 7605,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}