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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: 4-2823037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2823037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2823037,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000503393.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "NM_001122681.2",
"protein_id": "NP_001116153.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": "ENST00000503393.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000503393.8",
"protein_id": "ENSP00000422168.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": "NM_001122681.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000511747.6",
"protein_id": "ENSP00000424846.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 618,
"cds_start": 410,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2351,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.500G>A",
"hgvs_p": null,
"transcript": "ENST00000356331.10",
"protein_id": null,
"transcript_support_level": 1,
"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": 9211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_001145856.2",
"protein_id": "NP_001139328.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 618,
"cds_start": 410,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 9173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "NM_001145855.2",
"protein_id": "NP_001139327.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 589,
"cds_start": 323,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 9139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000435136.8",
"protein_id": "ENSP00000403231.3",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 589,
"cds_start": 323,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 9139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "NM_003023.4",
"protein_id": "NP_003014.3",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 9209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000502260.6",
"protein_id": "ENSP00000425537.2",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000503219.7",
"protein_id": "ENSP00000422796.2",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 9073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000504294.6",
"protein_id": "ENSP00000423275.2",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 8988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000508385.6",
"protein_id": "ENSP00000424917.2",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000512014.6",
"protein_id": "ENSP00000424105.2",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 9054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000513095.6",
"protein_id": "ENSP00000423823.2",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 9147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "ENST00000714405.1",
"protein_id": "ENSP00000519673.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 289,
"cds_start": 239,
"cds_end": null,
"cds_length": 870,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 8608,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.188G>A",
"hgvs_p": null,
"transcript": "ENST00000506932.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 537,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.598G>A",
"hgvs_p": null,
"transcript": "ENST00000509677.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 1087,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000510074.5",
"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": 649,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000511185.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1071,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000511237.5",
"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": 517,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.294G>A",
"hgvs_p": null,
"transcript": "ENST00000511663.5",
"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": 966,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000512131.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 615,
"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"
],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SH3BP2",
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"hgvs_c": "n.239G>A",
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"transcript": "ENST00000513020.6",
"protein_id": "ENSP00000424072.1",
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SH3BP2",
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"hgvs_c": "n.500G>A",
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"transcript": "ENST00000515737.6",
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"transcript_support_level": 2,
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"cds_start": -4,
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"cdna_length": 2579,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SH3BP2",
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"hgvs_c": "n.*202G>A",
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"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2449,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.410G>A",
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"transcript": "ENST00000714407.1",
"protein_id": "ENSP00000519675.1",
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"cds_start": -4,
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"cdna_length": 1853,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SH3BP2",
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"hgvs_c": "n.*202G>A",
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"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
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"cdna_length": 2449,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"dbsnp": "rs147432096",
"frequency_reference_population": 0.00061655574,
"hom_count_reference_population": 3,
"allele_count_reference_population": 993,
"gnomad_exomes_af": 0.00062192,
"gnomad_genomes_af": 0.00056515,
"gnomad_exomes_ac": 907,
"gnomad_genomes_ac": 86,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28916043043136597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.878000020980835,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.575,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.894,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.997303404624296,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000503393.8",
"gene_symbol": "SH3BP2",
"hgnc_id": 10825,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln"
}
],
"clinvar_disease": "Fibrous dysplasia of jaw,Intellectual disability,SH3BP2-related disorder",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Fibrous dysplasia of jaw|SH3BP2-related disorder|Intellectual disability",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}