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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: 10-26070215-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26070215&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26070215,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000642920.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "NM_017433.5",
"protein_id": "NP_059129.3",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1616,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "ENST00000642920.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "ENST00000642920.2",
"protein_id": "ENSP00000495965.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1616,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "NM_017433.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "ENST00000543632.5",
"protein_id": "ENSP00000445909.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 664,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519498.3",
"protein_id": "XP_011517800.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1616,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519499.2",
"protein_id": "XP_011517801.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1616,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519500.3",
"protein_id": "XP_011517802.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1616,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519502.1",
"protein_id": "XP_011517804.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1612,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519503.2",
"protein_id": "XP_011517805.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1568,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_047425355.1",
"protein_id": "XP_047281311.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1565,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gln373Gln",
"transcript": "XM_047425356.1",
"protein_id": "XP_047281312.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1564,
"cds_start": 1119,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gln373Gln",
"transcript": "XM_047425357.1",
"protein_id": "XP_047281313.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1564,
"cds_start": 1119,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519505.2",
"protein_id": "XP_011517807.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1532,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519506.3",
"protein_id": "XP_011517808.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gln373Gln",
"transcript": "XM_047425358.1",
"protein_id": "XP_047281314.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1119,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_047425359.1",
"protein_id": "XP_047281315.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1505,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_047425360.1",
"protein_id": "XP_047281316.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1484,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gln373Gln",
"transcript": "XM_047425361.1",
"protein_id": "XP_047281317.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1119,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519508.2",
"protein_id": "XP_011517810.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1435,
"cds_start": 1275,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_047425363.1",
"protein_id": "XP_047281319.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1275,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519510.2",
"protein_id": "XP_011517812.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1275,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "XM_011519511.3",
"protein_id": "XP_011517813.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1275,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.1479G>A",
"hgvs_p": null,
"transcript": "ENST00000642197.1",
"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": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.1275G>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.1479G>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
}
],
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"dbsnp": "rs77562287",
"frequency_reference_population": 0.00025603073,
"hom_count_reference_population": 4,
"allele_count_reference_population": 411,
"gnomad_exomes_af": 0.000139689,
"gnomad_genomes_af": 0.00136797,
"gnomad_exomes_ac": 203,
"gnomad_genomes_ac": 208,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.1899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9539999961853027,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.774,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.65,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999894660802379,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000642920.2",
"gene_symbol": "MYO3A",
"hgnc_id": 7601,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln"
}
],
"clinvar_disease": "MYO3A-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "not specified|not provided|MYO3A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}