← 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: 6-157201465-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157201465&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157201465,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5240G>A",
"hgvs_p": "p.Arg1747Gln",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5240,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5543,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5240G>A",
"hgvs_p": "p.Arg1747Gln",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 1747,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5240,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5543,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5120G>A",
"hgvs_p": "p.Arg1707Gln",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5120,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6046,
"cdna_end": null,
"cdna_length": 10813,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5081G>A",
"hgvs_p": "p.Arg1694Gln",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5081,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 8211,
"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"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2582G>A",
"hgvs_p": "p.Arg861Gln",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 861,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2582,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5073,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5369G>A",
"hgvs_p": "p.Arg1790Gln",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5369,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 5672,
"cdna_end": null,
"cdna_length": 10439,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5369G>A",
"hgvs_p": "p.Arg1790Gln",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5369,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 5369,
"cdna_end": null,
"cdna_length": 8616,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5282G>A",
"hgvs_p": "p.Arg1761Gln",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2386,
"cds_start": 5282,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 5585,
"cdna_end": null,
"cdna_length": 10352,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5150G>A",
"hgvs_p": "p.Arg1717Gln",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5150,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5453,
"cdna_end": null,
"cdna_length": 10220,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5150G>A",
"hgvs_p": "p.Arg1717Gln",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5150,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5150,
"cdna_end": null,
"cdna_length": 8280,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5123G>A",
"hgvs_p": "p.Arg1708Gln",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 2333,
"cds_start": 5123,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 10193,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5120G>A",
"hgvs_p": "p.Arg1707Gln",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5120,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6040,
"cdna_end": null,
"cdna_length": 10807,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5120G>A",
"hgvs_p": "p.Arg1707Gln",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5120,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 5423,
"cdna_end": null,
"cdna_length": 10190,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5081G>A",
"hgvs_p": "p.Arg1694Gln",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5081,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 5384,
"cdna_end": null,
"cdna_length": 10151,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5060G>A",
"hgvs_p": "p.Arg1687Gln",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 2312,
"cds_start": 5060,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 5363,
"cdna_end": null,
"cdna_length": 10130,
"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"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914Gln",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2741,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 7897,
"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"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914Gln",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2741,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 5913,
"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"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2582G>A",
"hgvs_p": "p.Arg861Gln",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2582,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 7738,
"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"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2561G>A",
"hgvs_p": "p.Arg854Gln",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 1479,
"cds_start": 2561,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 5830,
"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"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731Gln",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 731,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2192,
"cds_end": null,
"cds_length": 4048,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4048,
"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"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5450G>A",
"hgvs_p": "p.Arg1817Gln",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5450,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 5753,
"cdna_end": null,
"cdna_length": 10520,
"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"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5411G>A",
"hgvs_p": "p.Arg1804Gln",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2429,
"cds_start": 5411,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 10481,
"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"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5408G>A",
"hgvs_p": "p.Arg1803Gln",
"transcript": "XM_047419131.1",
"protein_id": "XP_047275087.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2428,
"cds_start": 5408,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 10478,
"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"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5321G>A",
"hgvs_p": "p.Arg1774Gln",
"transcript": "XM_017011104.2",
"protein_id": "XP_016866593.2",
"transcript_support_level": null,
"aa_start": 1774,
"aa_end": null,
"aa_length": 2399,
"cds_start": 5321,
"cds_end": null,
"cds_length": 7200,
"cdna_start": 5624,
"cdna_end": null,
"cdna_length": 10391,
"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"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5291G>A",
"hgvs_p": "p.Arg1764Gln",
"transcript": "XM_017011105.3",
"protein_id": "XP_016866594.2",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 2389,
"cds_start": 5291,
"cds_end": null,
"cds_length": 7170,
"cdna_start": 5594,
"cdna_end": null,
"cdna_length": 10361,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5279G>A",
"hgvs_p": "p.Arg1760Gln",
"transcript": "XM_047419134.1",
"protein_id": "XP_047275090.1",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 2385,
"cds_start": 5279,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 5582,
"cdna_end": null,
"cdna_length": 10349,
"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"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5270G>A",
"hgvs_p": "p.Arg1757Gln",
"transcript": "XM_047419135.1",
"protein_id": "XP_047275091.1",
"transcript_support_level": null,
"aa_start": 1757,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5270,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 5573,
"cdna_end": null,
"cdna_length": 10340,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5252G>A",
"hgvs_p": "p.Arg1751Gln",
"transcript": "XM_047419136.1",
"protein_id": "XP_047275092.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 2376,
"cds_start": 5252,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 5555,
"cdna_end": null,
"cdna_length": 10322,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Arg1750Gln",
"transcript": "XM_047419137.1",
"protein_id": "XP_047275093.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 2375,
"cds_start": 5249,
"cds_end": null,
"cds_length": 7128,
"cdna_start": 5552,
"cdna_end": null,
"cdna_length": 10319,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5231G>A",
"hgvs_p": "p.Arg1744Gln",
"transcript": "XM_047419138.1",
"protein_id": "XP_047275094.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2369,
"cds_start": 5231,
"cds_end": null,
"cds_length": 7110,
"cdna_start": 5534,
"cdna_end": null,
"cdna_length": 10301,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5210G>A",
"hgvs_p": "p.Arg1737Gln",
"transcript": "XM_047419140.1",
"protein_id": "XP_047275096.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 2362,
"cds_start": 5210,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 5513,
"cdna_end": null,
"cdna_length": 10280,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5189G>A",
"hgvs_p": "p.Arg1730Gln",
"transcript": "XM_047419141.1",
"protein_id": "XP_047275097.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2355,
"cds_start": 5189,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 5492,
"cdna_end": null,
"cdna_length": 10259,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5162G>A",
"hgvs_p": "p.Arg1721Gln",
"transcript": "XM_017011106.3",
"protein_id": "XP_016866595.2",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 2346,
"cds_start": 5162,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 5465,
"cdna_end": null,
"cdna_length": 10232,
"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"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5141G>A",
"hgvs_p": "p.Arg1714Gln",
"transcript": "XM_017011107.3",
"protein_id": "XP_016866596.2",
"transcript_support_level": null,
"aa_start": 1714,
"aa_end": null,
"aa_length": 2339,
"cds_start": 5141,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 5444,
"cdna_end": null,
"cdna_length": 10211,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5102G>A",
"hgvs_p": "p.Arg1701Gln",
"transcript": "XM_047419144.1",
"protein_id": "XP_047275100.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 2326,
"cds_start": 5102,
"cds_end": null,
"cds_length": 6981,
"cdna_start": 5405,
"cdna_end": null,
"cdna_length": 10172,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5099G>A",
"hgvs_p": "p.Arg1700Gln",
"transcript": "XM_047419145.1",
"protein_id": "XP_047275101.1",
"transcript_support_level": null,
"aa_start": 1700,
"aa_end": null,
"aa_length": 2325,
"cds_start": 5099,
"cds_end": null,
"cds_length": 6978,
"cdna_start": 5402,
"cdna_end": null,
"cdna_length": 10169,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5072G>A",
"hgvs_p": "p.Arg1691Gln",
"transcript": "XM_047419146.1",
"protein_id": "XP_047275102.1",
"transcript_support_level": null,
"aa_start": 1691,
"aa_end": null,
"aa_length": 2316,
"cds_start": 5072,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 5375,
"cdna_end": null,
"cdna_length": 10142,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5030G>A",
"hgvs_p": "p.Arg1677Gln",
"transcript": "XM_047419148.1",
"protein_id": "XP_047275104.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5030,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 5333,
"cdna_end": null,
"cdna_length": 10100,
"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"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Arg1664Gln",
"transcript": "XM_047419149.1",
"protein_id": "XP_047275105.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 2289,
"cds_start": 4991,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 5294,
"cdna_end": null,
"cdna_length": 10061,
"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"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4982G>A",
"hgvs_p": "p.Arg1661Gln",
"transcript": "XM_047419150.1",
"protein_id": "XP_047275106.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 2286,
"cds_start": 4982,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 10052,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4940G>A",
"hgvs_p": "p.Arg1647Gln",
"transcript": "XM_047419151.1",
"protein_id": "XP_047275107.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2272,
"cds_start": 4940,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 5243,
"cdna_end": null,
"cdna_length": 10010,
"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"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4901G>A",
"hgvs_p": "p.Arg1634Gln",
"transcript": "XM_047419152.1",
"protein_id": "XP_047275108.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4901,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 5204,
"cdna_end": null,
"cdna_length": 9971,
"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"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3254G>A",
"hgvs_p": "p.Arg1085Gln",
"transcript": "XM_047419153.1",
"protein_id": "XP_047275109.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1710,
"cds_start": 3254,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 8120,
"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"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2966G>A",
"hgvs_p": "p.Arg989Gln",
"transcript": "XM_047419154.1",
"protein_id": "XP_047275110.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1614,
"cds_start": 2966,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 3064,
"cdna_end": null,
"cdna_length": 7831,
"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"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Arg711Gln",
"transcript": "XM_011535988.4",
"protein_id": "XP_011534290.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2132,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 6991,
"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"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Gln",
"transcript": "XM_047419156.1",
"protein_id": "XP_047275112.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1973,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 6832,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.3703G>A",
"hgvs_p": null,
"transcript": "ENST00000636227.1",
"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": 6386,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.1160G>A",
"hgvs_p": null,
"transcript": "ENST00000636254.1",
"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": 3848,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.3237G>A",
"hgvs_p": null,
"transcript": "ENST00000636940.1",
"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": 5910,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*2233G>A",
"hgvs_p": null,
"transcript": "ENST00000637568.1",
"protein_id": "ENSP00000490511.1",
"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": 4610,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.1906G>A",
"hgvs_p": null,
"transcript": "ENST00000637741.1",
"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": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*2233G>A",
"hgvs_p": null,
"transcript": "ENST00000637568.1",
"protein_id": "ENSP00000490511.1",
"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": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.*529G>A",
"hgvs_p": null,
"transcript": "XM_047419155.1",
"protein_id": "XP_047275111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1607,
"cds_start": -4,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs762183842",
"frequency_reference_population": 0.000009287305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000811723,
"gnomad_genomes_af": 0.000019699,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5643372535705566,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.701,
"phylop100way_prediction": "Pathogenic",
"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": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5240G>A",
"hgvs_p": "p.Arg1747Gln"
}
],
"clinvar_disease": "Coffin-Siris syndrome 1,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Coffin-Siris syndrome 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}