← 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: 1-161544780-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161544780&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161544780,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000443193.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_000569.8",
"protein_id": "NP_000560.7",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "ENST00000443193.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000443193.6",
"protein_id": "ENSP00000392047.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "NM_000569.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Asp270Asp",
"transcript": "NM_001127592.2",
"protein_id": "NP_001121064.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 358,
"cds_start": 810,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000699401.1",
"protein_id": "ENSP00000514362.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 269,
"cds_start": 498,
"cds_end": null,
"cds_length": 810,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000699398.1",
"protein_id": "ENSP00000514359.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 262,
"cds_start": 498,
"cds_end": null,
"cds_length": 789,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_001127593.1",
"protein_id": "NP_001121065.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_001127595.2",
"protein_id": "NP_001121067.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "NM_001329120.2",
"protein_id": "NP_001316049.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000367967.8",
"protein_id": "ENSP00000356944.3",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000436743.7",
"protein_id": "ENSP00000416607.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000699395.1",
"protein_id": "ENSP00000514356.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000699396.1",
"protein_id": "ENSP00000514357.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000699397.1",
"protein_id": "ENSP00000514358.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 254,
"cds_start": 498,
"cds_end": null,
"cds_length": 765,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Asp165Asp",
"transcript": "NM_001127596.2",
"protein_id": "NP_001121068.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 253,
"cds_start": 495,
"cds_end": null,
"cds_length": 762,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Asp165Asp",
"transcript": "NM_001386450.1",
"protein_id": "NP_001373379.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 253,
"cds_start": 495,
"cds_end": null,
"cds_length": 762,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Asp165Asp",
"transcript": "ENST00000426740.8",
"protein_id": "ENSP00000410180.3",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 253,
"cds_start": 495,
"cds_end": null,
"cds_length": 762,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Asp165Asp",
"transcript": "ENST00000699400.1",
"protein_id": "ENSP00000514361.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 253,
"cds_start": 495,
"cds_end": null,
"cds_length": 762,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000699399.1",
"protein_id": "ENSP00000514360.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 237,
"cds_start": 447,
"cds_end": null,
"cds_length": 714,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Asp195Asp",
"transcript": "XM_047449443.1",
"protein_id": "XP_047305399.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 283,
"cds_start": 585,
"cds_end": null,
"cds_length": 852,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Asp189Asp",
"transcript": "XM_047449444.1",
"protein_id": "XP_047305400.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 277,
"cds_start": 567,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.635-1581C>T",
"hgvs_p": null,
"transcript": "NM_001329122.1",
"protein_id": "NP_001316051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273112",
"gene_hgnc_id": null,
"hgvs_c": "n.271+26643G>A",
"hgvs_p": null,
"transcript": "ENST00000537821.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310467",
"gene_hgnc_id": null,
"hgvs_c": "n.185+3751G>A",
"hgvs_p": null,
"transcript": "ENST00000850089.1",
"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": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.*27C>T",
"hgvs_p": null,
"transcript": "ENST00000699402.1",
"protein_id": "ENSP00000514363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.*89C>T",
"hgvs_p": null,
"transcript": "ENST00000442336.2",
"protein_id": "ENSP00000396567.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "n.*230C>T",
"hgvs_p": null,
"transcript": "ENST00000699493.1",
"protein_id": "ENSP00000514404.1",
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"dbsnp": "rs449443",
"frequency_reference_population": 0.00033840947,
"hom_count_reference_population": 5,
"allele_count_reference_population": 546,
"gnomad_exomes_af": 0.000310004,
"gnomad_genomes_af": 0.000611207,
"gnomad_exomes_ac": 453,
"gnomad_genomes_ac": 93,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023000000044703484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.531,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000443193.6",
"gene_symbol": "FCGR3A",
"hgnc_id": 3619,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Asp166Asp"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000850089.1",
"gene_symbol": "ENSG00000310467",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185+3751G>A",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000537821.2",
"gene_symbol": "ENSG00000273112",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.271+26643G>A",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000699402.1",
"gene_symbol": "ENSG00000289768",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*27C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}