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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: 11-77211154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77211154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77211154,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000409709.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6054G>A",
"hgvs_p": "p.Glu2018Glu",
"transcript": "NM_000260.4",
"protein_id": "NP_000251.3",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2215,
"cds_start": 6054,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 6344,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "ENST00000409709.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6054G>A",
"hgvs_p": "p.Glu2018Glu",
"transcript": "ENST00000409709.9",
"protein_id": "ENSP00000386331.3",
"transcript_support_level": 1,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2215,
"cds_start": 6054,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 6344,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "NM_000260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5940G>A",
"hgvs_p": "p.Glu1980Glu",
"transcript": "ENST00000458637.6",
"protein_id": "ENSP00000392185.2",
"transcript_support_level": 1,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2175,
"cds_start": 5940,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 7336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Glu1969Glu",
"transcript": "ENST00000409619.6",
"protein_id": "ENSP00000386635.2",
"transcript_support_level": 1,
"aa_start": 1969,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5907,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6254,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.3480G>A",
"hgvs_p": "p.Glu1160Glu",
"transcript": "ENST00000458169.2",
"protein_id": "ENSP00000417017.2",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3480,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*626G>A",
"hgvs_p": null,
"transcript": "ENST00000670577.1",
"protein_id": "ENSP00000499323.1",
"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": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*626G>A",
"hgvs_p": null,
"transcript": "ENST00000670577.1",
"protein_id": "ENSP00000499323.1",
"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": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6118G>A",
"hgvs_p": "p.Val2040Ile",
"transcript": "XM_047426972.1",
"protein_id": "XP_047282928.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2095,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6288,
"cdna_start": 6215,
"cdna_end": null,
"cdna_length": 6398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5940G>A",
"hgvs_p": "p.Glu1980Glu",
"transcript": "NM_001127180.2",
"protein_id": "NP_001120652.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2175,
"cds_start": 5940,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 6230,
"cdna_end": null,
"cdna_length": 7363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Glu1969Glu",
"transcript": "NM_001369365.1",
"protein_id": "NP_001356294.1",
"transcript_support_level": null,
"aa_start": 1969,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5907,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6310,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Glu2048Glu",
"transcript": "XM_011545046.3",
"protein_id": "XP_011543348.2",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6777,
"cdna_start": 6241,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6138G>A",
"hgvs_p": "p.Glu2046Glu",
"transcript": "XM_017017778.2",
"protein_id": "XP_016873267.1",
"transcript_support_level": null,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2256,
"cds_start": 6138,
"cds_end": null,
"cds_length": 6771,
"cdna_start": 6235,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6135G>A",
"hgvs_p": "p.Glu2045Glu",
"transcript": "XM_017017779.2",
"protein_id": "XP_016873268.1",
"transcript_support_level": null,
"aa_start": 2045,
"aa_end": null,
"aa_length": 2255,
"cds_start": 6135,
"cds_end": null,
"cds_length": 6768,
"cdna_start": 6232,
"cdna_end": null,
"cdna_length": 7181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Glu2048Glu",
"transcript": "XM_017017780.2",
"protein_id": "XP_016873269.1",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2245,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 6241,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6054G>A",
"hgvs_p": "p.Glu2018Glu",
"transcript": "XM_011545044.3",
"protein_id": "XP_011543346.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2228,
"cds_start": 6054,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 6344,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6048G>A",
"hgvs_p": "p.Glu2016Glu",
"transcript": "XM_017017781.2",
"protein_id": "XP_016873270.1",
"transcript_support_level": null,
"aa_start": 2016,
"aa_end": null,
"aa_length": 2226,
"cds_start": 6048,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 6145,
"cdna_end": null,
"cdna_length": 7094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6030G>A",
"hgvs_p": "p.Glu2010Glu",
"transcript": "XM_017017782.2",
"protein_id": "XP_016873271.1",
"transcript_support_level": null,
"aa_start": 2010,
"aa_end": null,
"aa_length": 2220,
"cds_start": 6030,
"cds_end": null,
"cds_length": 6663,
"cdna_start": 6127,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6027G>A",
"hgvs_p": "p.Glu2009Glu",
"transcript": "XM_017017783.2",
"protein_id": "XP_016873272.1",
"transcript_support_level": null,
"aa_start": 2009,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6027,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6124,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6021G>A",
"hgvs_p": "p.Glu2007Glu",
"transcript": "XM_047426973.1",
"protein_id": "XP_047282929.1",
"transcript_support_level": null,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2217,
"cds_start": 6021,
"cds_end": null,
"cds_length": 6654,
"cdna_start": 6128,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6030G>A",
"hgvs_p": "p.Glu2010Glu",
"transcript": "XM_017017788.2",
"protein_id": "XP_016873277.1",
"transcript_support_level": null,
"aa_start": 2010,
"aa_end": null,
"aa_length": 2207,
"cds_start": 6030,
"cds_end": null,
"cds_length": 6624,
"cdna_start": 6127,
"cdna_end": null,
"cdna_length": 7266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6027G>A",
"hgvs_p": "p.Glu2009Glu",
"transcript": "XM_017017784.2",
"protein_id": "XP_016873273.1",
"transcript_support_level": null,
"aa_start": 2009,
"aa_end": null,
"aa_length": 2206,
"cds_start": 6027,
"cds_end": null,
"cds_length": 6621,
"cdna_start": 6124,
"cdna_end": null,
"cdna_length": 7263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5958G>A",
"hgvs_p": "p.Glu1986Glu",
"transcript": "XM_047426970.1",
"protein_id": "XP_047282926.1",
"transcript_support_level": null,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2196,
"cds_start": 5958,
"cds_end": null,
"cds_length": 6591,
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},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"synonymous_variant"
],
"exon_rank": 43,
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"exon_count": 44,
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"feature": null
},
{
"aa_ref": "E",
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"protein_coding": true,
"strand": true,
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"synonymous_variant"
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"gene_symbol": "MYO7A",
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"hgvs_c": "c.6144G>A",
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"protein_id": "XP_016873275.1",
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"aa_start": 2048,
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"cds_start": 6144,
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"cdna_start": 6241,
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"cdna_length": 6673,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
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"exon_count": 45,
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"gene_symbol": "MYO7A",
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"hgvs_c": "c.5817G>A",
"hgvs_p": "p.Glu1939Glu",
"transcript": "XM_047426971.1",
"protein_id": "XP_047282927.1",
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"aa_start": 1939,
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"cdna_start": 6107,
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"cdna_length": 7056,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 43,
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"exon_count": 44,
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"gene_symbol": "MYO7A",
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"hgvs_c": "c.5790G>A",
"hgvs_p": "p.Glu1930Glu",
"transcript": "XM_011545050.3",
"protein_id": "XP_011543352.1",
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"aa_start": 1930,
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"cds_start": 5790,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
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"gene_symbol": "MYO7A",
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"transcript": "ENST00000481328.7",
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"feature": null
},
{
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"gene_symbol": "MYO7A",
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "MYO7A",
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"hgvs_c": "n.25+243G>A",
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"transcript": "ENST00000526863.2",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": -4,
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"cdna_length": 456,
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"feature": null
}
],
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"dbsnp": "rs1239820996",
"frequency_reference_population": 0.0000070421147,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000704211,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"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": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.405,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000409709.9",
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6054G>A",
"hgvs_p": "p.Glu2018Glu"
}
],
"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 specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}