← 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: 15-52319317-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52319317&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52319317,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000399233.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4977G>T",
"hgvs_p": "p.Thr1659Thr",
"transcript": "NM_001382347.1",
"protein_id": "NP_001369276.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1880,
"cds_start": 4977,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5051,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "ENST00000399233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4977G>T",
"hgvs_p": "p.Thr1659Thr",
"transcript": "ENST00000399233.7",
"protein_id": "ENSP00000382179.4",
"transcript_support_level": 5,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1880,
"cds_start": 4977,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5051,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "NM_001382347.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4902G>T",
"hgvs_p": "p.Thr1634Thr",
"transcript": "ENST00000399231.8",
"protein_id": "ENSP00000382177.3",
"transcript_support_level": 1,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4902,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5146,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4896G>T",
"hgvs_p": "p.Thr1632Thr",
"transcript": "ENST00000356338.11",
"protein_id": "ENSP00000348693.7",
"transcript_support_level": 1,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4896,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 4931,
"cdna_end": null,
"cdna_length": 12010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1503G>T",
"hgvs_p": "p.Thr501Thr",
"transcript": "ENST00000399229.7",
"protein_id": "ENSP00000382175.3",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 722,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000399228.6",
"protein_id": "ENSP00000382174.2",
"transcript_support_level": 1,
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000399228.6",
"protein_id": "ENSP00000382174.2",
"transcript_support_level": 1,
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5049G>T",
"hgvs_p": "p.Thr1683Thr",
"transcript": "NM_001382348.1",
"protein_id": "NP_001369277.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5715,
"cdna_start": 5171,
"cdna_end": null,
"cdna_length": 12250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4974G>T",
"hgvs_p": "p.Thr1658Thr",
"transcript": "NM_001382349.1",
"protein_id": "NP_001369278.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1879,
"cds_start": 4974,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5096,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4902G>T",
"hgvs_p": "p.Thr1634Thr",
"transcript": "NM_000259.3",
"protein_id": "NP_000250.3",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4902,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5146,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4893G>T",
"hgvs_p": "p.Thr1631Thr",
"transcript": "NM_001411135.1",
"protein_id": "NP_001398064.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1852,
"cds_start": 4893,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4893G>T",
"hgvs_p": "p.Thr1631Thr",
"transcript": "ENST00000692556.1",
"protein_id": "ENSP00000510378.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1852,
"cds_start": 4893,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 4893,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4860G>T",
"hgvs_p": "p.Thr1620Thr",
"transcript": "ENST00000553916.6",
"protein_id": "ENSP00000451109.2",
"transcript_support_level": 5,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1841,
"cds_start": 4860,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 4934,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4821G>T",
"hgvs_p": "p.Thr1607Thr",
"transcript": "NM_001142495.2",
"protein_id": "NP_001135967.2",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1828,
"cds_start": 4821,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 4895,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4821G>T",
"hgvs_p": "p.Thr1607Thr",
"transcript": "ENST00000687574.1",
"protein_id": "ENSP00000510312.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1828,
"cds_start": 4821,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 5147,
"cdna_end": null,
"cdna_length": 12223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2529G>T",
"hgvs_p": "p.Thr843Thr",
"transcript": "ENST00000688074.1",
"protein_id": "ENSP00000509404.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2529,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2523G>T",
"hgvs_p": "p.Thr841Thr",
"transcript": "ENST00000692646.1",
"protein_id": "ENSP00000510243.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2457G>T",
"hgvs_p": "p.Thr819Thr",
"transcript": "ENST00000685194.1",
"protein_id": "ENSP00000509314.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2457,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4968G>T",
"hgvs_p": "p.Thr1656Thr",
"transcript": "XM_047432540.1",
"protein_id": "XP_047288496.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1877,
"cds_start": 4968,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 5212,
"cdna_end": null,
"cdna_length": 12291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4896G>T",
"hgvs_p": "p.Thr1632Thr",
"transcript": "XM_047432541.1",
"protein_id": "XP_047288497.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4896,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 5140,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4887G>T",
"hgvs_p": "p.Thr1629Thr",
"transcript": "XM_047432543.1",
"protein_id": "XP_047288499.1",
"transcript_support_level": null,
"aa_start": 1629,
"aa_end": null,
"aa_length": 1850,
"cds_start": 4887,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5131,
"cdna_end": null,
"cdna_length": 12210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4812G>T",
"hgvs_p": "p.Thr1604Thr",
"transcript": "XM_047432544.1",
"protein_id": "XP_047288500.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5056,
"cdna_end": null,
"cdna_length": 12135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4584G>T",
"hgvs_p": "p.Thr1528Thr",
"transcript": "XM_047432545.1",
"protein_id": "XP_047288501.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1749,
"cds_start": 4584,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 12045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4263G>T",
"hgvs_p": "p.Thr1421Thr",
"transcript": "XM_047432546.1",
"protein_id": "XP_047288502.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4263,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 5356,
"cdna_end": null,
"cdna_length": 12435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.760G>T",
"hgvs_p": null,
"transcript": "ENST00000465290.2",
"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": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*4505G>T",
"hgvs_p": null,
"transcript": "ENST00000556196.6",
"protein_id": "ENSP00000451178.1",
"transcript_support_level": 2,
"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": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.2502G>T",
"hgvs_p": null,
"transcript": "ENST00000686166.1",
"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": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000686171.1",
"protein_id": "ENSP00000509118.1",
"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": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.1172G>T",
"hgvs_p": null,
"transcript": "ENST00000686603.1",
"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": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.5187G>T",
"hgvs_p": null,
"transcript": "ENST00000686989.1",
"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": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.6703G>T",
"hgvs_p": null,
"transcript": "ENST00000687172.1",
"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": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.3045G>T",
"hgvs_p": null,
"transcript": "ENST00000688792.1",
"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": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000688798.1",
"protein_id": "ENSP00000509340.1",
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.3845G>T",
"hgvs_p": null,
"transcript": "ENST00000689601.1",
"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": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.528G>T",
"hgvs_p": null,
"transcript": "ENST00000690802.1",
"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": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.1820G>T",
"hgvs_p": null,
"transcript": "ENST00000692874.1",
"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": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*4505G>T",
"hgvs_p": null,
"transcript": "ENST00000556196.6",
"protein_id": "ENSP00000451178.1",
"transcript_support_level": 2,
"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": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000686171.1",
"protein_id": "ENSP00000509118.1",
"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": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000688798.1",
"protein_id": "ENSP00000509340.1",
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"dbsnp": "rs527372564",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000399233.7",
"gene_symbol": "MYO5A",
"hgnc_id": 7602,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4977G>T",
"hgvs_p": "p.Thr1659Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}