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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: 10-26168755-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26168755&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26168755,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000642920.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "NM_017433.5",
"protein_id": "NP_059129.3",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1616,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "ENST00000642920.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "ENST00000642920.2",
"protein_id": "ENSP00000495965.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1616,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "NM_017433.5",
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1777-43088G>A",
"hgvs_p": null,
"transcript": "ENST00000543632.5",
"protein_id": "ENSP00000445909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519498.3",
"protein_id": "XP_011517800.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1616,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3557,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519499.2",
"protein_id": "XP_011517801.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1616,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519500.3",
"protein_id": "XP_011517802.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1616,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519502.1",
"protein_id": "XP_011517804.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519503.2",
"protein_id": "XP_011517805.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1568,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_047425355.1",
"protein_id": "XP_047281311.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1565,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2999G>A",
"hgvs_p": "p.Arg1000Gln",
"transcript": "XM_047425356.1",
"protein_id": "XP_047281312.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2999,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2999G>A",
"hgvs_p": "p.Arg1000Gln",
"transcript": "XM_047425357.1",
"protein_id": "XP_047281313.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2999,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519505.2",
"protein_id": "XP_011517807.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519506.3",
"protein_id": "XP_011517808.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2999G>A",
"hgvs_p": "p.Arg1000Gln",
"transcript": "XM_047425358.1",
"protein_id": "XP_047281314.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
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"cds_start": 2999,
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"cdna_start": 3203,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_047425359.1",
"protein_id": "XP_047281315.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_047425360.1",
"protein_id": "XP_047281316.1",
"transcript_support_level": null,
"aa_start": 1052,
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"cds_start": 3155,
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"cdna_start": 3272,
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"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2999G>A",
"hgvs_p": "p.Arg1000Gln",
"transcript": "XM_047425361.1",
"protein_id": "XP_047281317.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1480,
"cds_start": 2999,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519508.2",
"protein_id": "XP_011517810.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3359,
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"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_047425363.1",
"protein_id": "XP_047281319.1",
"transcript_support_level": null,
"aa_start": 1052,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "XM_011519510.2",
"protein_id": "XP_011517812.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
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"cds_start": 3155,
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"cdna_start": 3359,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428Gln",
"transcript": "XM_011519512.2",
"protein_id": "XP_011517814.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 992,
"cds_start": 1283,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_011519513.3",
"protein_id": "XP_011517815.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 839,
"cds_start": 824,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3980,
"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": 2,
"intron_rank": null,
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"gene_symbol": "MYO3A",
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"hgvs_c": "n.381G>A",
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"transcript": "ENST00000477691.2",
"protein_id": null,
"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": 465,
"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": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.*1150G>A",
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"transcript": "ENST00000647478.1",
"protein_id": "ENSP00000493932.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3846,
"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": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.3359G>A",
"hgvs_p": null,
"transcript": "XR_930494.1",
"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": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.*1150G>A",
"hgvs_p": null,
"transcript": "ENST00000647478.1",
"protein_id": "ENSP00000493932.1",
"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": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"dbsnp": "rs267602452",
"frequency_reference_population": 0.00002727329,
"hom_count_reference_population": 1,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000266928,
"gnomad_genomes_af": 0.0000328442,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3178141117095947,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.375,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.216,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642920.2",
"gene_symbol": "MYO3A",
"hgnc_id": 7601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 30,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 30|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}