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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: 1-207321780-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207321780&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207321780,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367064.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "NM_000574.5",
"protein_id": "NP_000565.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 381,
"cds_start": 15,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "ENST00000367064.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000367064.9",
"protein_id": "ENSP00000356031.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 381,
"cds_start": 15,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "NM_000574.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000367063.6",
"protein_id": "ENSP00000356030.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 444,
"cds_start": 15,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000314754.12",
"protein_id": "ENSP00000316333.8",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 440,
"cds_start": 15,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000391921.9",
"protein_id": "ENSP00000375788.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 317,
"cds_start": 15,
"cds_end": null,
"cds_length": 954,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "NM_001300902.2",
"protein_id": "NP_001287831.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 444,
"cds_start": 15,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "NM_001114752.3",
"protein_id": "NP_001108224.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 440,
"cds_start": 15,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "NM_001300903.2",
"protein_id": "NP_001287832.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 439,
"cds_start": 15,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000645323.1",
"protein_id": "ENSP00000496251.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 439,
"cds_start": 15,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000695824.1",
"protein_id": "ENSP00000512201.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 391,
"cds_start": 15,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "NM_001300904.2",
"protein_id": "NP_001287833.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 384,
"cds_start": 15,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000644836.1",
"protein_id": "ENSP00000495518.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 384,
"cds_start": 15,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000695828.1",
"protein_id": "ENSP00000512204.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 381,
"cds_start": 15,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000695826.1",
"protein_id": "ENSP00000512203.1",
"transcript_support_level": null,
"aa_start": 5,
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"cds_start": 15,
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"cdna_start": 251,
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"cdna_length": 1663,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg",
"transcript": "ENST00000695823.1",
"protein_id": "ENSP00000512200.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 318,
"cds_start": 15,
"cds_end": null,
"cds_length": 957,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1995,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.262G>A",
"hgvs_p": null,
"transcript": "ENST00000695822.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.15G>A",
"hgvs_p": null,
"transcript": "ENST00000695825.1",
"protein_id": "ENSP00000512202.1",
"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": 3200,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.243G>A",
"hgvs_p": null,
"transcript": "ENST00000695827.1",
"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": 3782,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.120G>A",
"hgvs_p": null,
"transcript": "ENST00000695829.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296591",
"gene_hgnc_id": null,
"hgvs_c": "n.22C>T",
"hgvs_p": null,
"transcript": "ENST00000740658.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296591",
"gene_hgnc_id": null,
"hgvs_c": "n.2C>T",
"hgvs_p": null,
"transcript": "ENST00000740659.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.103G>A",
"hgvs_p": null,
"transcript": "NR_125349.2",
"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": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985251",
"gene_hgnc_id": null,
"hgvs_c": "n.350C>T",
"hgvs_p": null,
"transcript": "XR_007066837.1",
"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": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985251",
"gene_hgnc_id": null,
"hgvs_c": "n.350C>T",
"hgvs_p": null,
"transcript": "XR_007066838.1",
"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": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.103G>A",
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"transcript": "XR_007095644.1",
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"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,
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"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.-13G>A",
"hgvs_p": null,
"transcript": "ENST00000343420.6",
"protein_id": "ENSP00000340631.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296591",
"gene_hgnc_id": null,
"hgvs_c": "n.-6C>T",
"hgvs_p": null,
"transcript": "ENST00000740660.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 716,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296591",
"gene_hgnc_id": null,
"hgvs_c": "n.-9C>T",
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"transcript": "ENST00000740661.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 343,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"dbsnp": "rs1654412142",
"frequency_reference_population": 7.3116627e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.31166e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.099,
"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": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367064.9",
"gene_symbol": "CD55",
"hgnc_id": 2665,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Arg5Arg"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000740658.1",
"gene_symbol": "ENSG00000296591",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.22C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007066837.1",
"gene_symbol": "LOC107985251",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.350C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}