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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: 1-149791461-AAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149791461&ref=AAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 149791461,
"ref": "AAAG",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001378804.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1075_1077delGAA",
"hgvs_p": "p.Glu359del",
"transcript": "NM_000566.4",
"protein_id": "NP_000557.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 374,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369168.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000566.4"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1075_1077delGAA",
"hgvs_p": "p.Glu359del",
"transcript": "ENST00000369168.5",
"protein_id": "ENSP00000358165.4",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 374,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000566.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369168.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000233030",
"gene_hgnc_id": null,
"hgvs_c": "n.1063+494_1063+496delCTT",
"hgvs_p": null,
"transcript": "ENST00000428289.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000428289.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1165_1167delGAA",
"hgvs_p": "p.Glu389del",
"transcript": "ENST00000964516.1",
"protein_id": "ENSP00000634575.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 404,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964516.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1078_1080delGAA",
"hgvs_p": "p.Glu360del",
"transcript": "NM_001378804.1",
"protein_id": "NP_001365733.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 375,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378804.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1078_1080delGAA",
"hgvs_p": "p.Glu360del",
"transcript": "ENST00000866776.1",
"protein_id": "ENSP00000536835.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 375,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866776.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1054_1056delGAA",
"hgvs_p": "p.Glu352del",
"transcript": "NM_001378805.1",
"protein_id": "NP_001365734.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 367,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378805.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1024_1026delGAA",
"hgvs_p": "p.Glu342del",
"transcript": "NM_001378806.1",
"protein_id": "NP_001365735.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 357,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378806.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1024_1026delGAA",
"hgvs_p": "p.Glu342del",
"transcript": "ENST00000866777.1",
"protein_id": "ENSP00000536836.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 357,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866777.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.1006_1008delGAA",
"hgvs_p": "p.Glu336del",
"transcript": "NM_001378807.1",
"protein_id": "NP_001365736.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 351,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378807.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.823_825delGAA",
"hgvs_p": "p.Glu275del",
"transcript": "NM_001378808.1",
"protein_id": "NP_001365737.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 290,
"cds_start": 823,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378808.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.820_822delGAA",
"hgvs_p": "p.Glu274del",
"transcript": "NM_001378809.1",
"protein_id": "NP_001365738.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 289,
"cds_start": 820,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378809.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.820_822delGAA",
"hgvs_p": "p.Glu274del",
"transcript": "ENST00000866778.1",
"protein_id": "ENSP00000536837.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 289,
"cds_start": 820,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866778.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.799_801delGAA",
"hgvs_p": "p.Glu267del",
"transcript": "NM_001378810.1",
"protein_id": "NP_001365739.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 282,
"cds_start": 799,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378810.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.748_750delGAA",
"hgvs_p": "p.Glu250del",
"transcript": "NM_001378811.1",
"protein_id": "NP_001365740.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 265,
"cds_start": 748,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378811.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "H2BC18",
"gene_hgnc_id": 24700,
"hgvs_c": "c.378-8204_378-8202delCTT",
"hgvs_p": null,
"transcript": "NM_001161334.2",
"protein_id": "NP_001154806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161334.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "H2BC18",
"gene_hgnc_id": 24700,
"hgvs_c": "c.378-8204_378-8202delCTT",
"hgvs_p": null,
"transcript": "ENST00000545683.1",
"protein_id": "ENSP00000445831.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545683.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904411",
"gene_hgnc_id": null,
"hgvs_c": "c.*576+494_*576+496delCTT",
"hgvs_p": null,
"transcript": "XM_047438180.1",
"protein_id": "XP_047294136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438180.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904411",
"gene_hgnc_id": null,
"hgvs_c": "c.*576+494_*576+496delCTT",
"hgvs_p": null,
"transcript": "XM_047438182.1",
"protein_id": "XP_047294138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438182.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904411",
"gene_hgnc_id": null,
"hgvs_c": "c.*576+494_*576+496delCTT",
"hgvs_p": null,
"transcript": "XM_047438183.1",
"protein_id": "XP_047294139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438183.1"
},
{
"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,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "n.269_271delGAA",
"hgvs_p": null,
"transcript": "ENST00000489704.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "n.1027_1029delGAA",
"hgvs_p": null,
"transcript": "NR_166121.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_166121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "n.1125_1127delGAA",
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"transcript": "NR_166122.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_166122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
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"hgvs_c": "n.1125_1127delGAA",
"hgvs_p": null,
"transcript": "NR_166123.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_166123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "H2BC18",
"gene_hgnc_id": 24700,
"hgvs_c": "n.76-8204_76-8202delCTT",
"hgvs_p": null,
"transcript": "ENST00000420462.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000420462.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"hgvs_c": "c.*72_*74delAAG",
"hgvs_p": null,
"transcript": "ENST00000444948.5",
"protein_id": "ENSP00000394279.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444948.5"
}
],
"gene_symbol": "FCGR1A",
"gene_hgnc_id": 3613,
"dbsnp": "rs587645491",
"frequency_reference_population": 0.00069252506,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1114,
"gnomad_exomes_af": 0.000440113,
"gnomad_genomes_af": 0.00314898,
"gnomad_exomes_ac": 642,
"gnomad_genomes_ac": 472,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.173,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4_Supporting,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001378804.1",
"gene_symbol": "FCGR1A",
"hgnc_id": 3613,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.1078_1080delGAA",
"hgvs_p": "p.Glu360del"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001161334.2",
"gene_symbol": "H2BC18",
"hgnc_id": 24700,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.378-8204_378-8202delCTT",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000428289.1",
"gene_symbol": "ENSG00000233030",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1063+494_1063+496delCTT",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_047438180.1",
"gene_symbol": "LOC124904411",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*576+494_*576+496delCTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}