← 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: 6-157181052-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157181052&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157181052,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3588C>G",
"hgvs_p": "p.Val1196Val",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 2372,
"cds_start": 3588,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3588C>G",
"hgvs_p": "p.Val1196Val",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 1196,
"aa_end": null,
"aa_length": 2372,
"cds_start": 3588,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3468C>G",
"hgvs_p": "p.Val1156Val",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 1156,
"aa_end": null,
"aa_length": 2332,
"cds_start": 3468,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 4394,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3429C>G",
"hgvs_p": "p.Val1143Val",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 1143,
"aa_end": null,
"aa_length": 2319,
"cds_start": 3429,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Val310Val",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 1486,
"cds_start": 930,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3717C>G",
"hgvs_p": "p.Val1239Val",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 2415,
"cds_start": 3717,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3717C>G",
"hgvs_p": "p.Val1239Val",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 1239,
"aa_end": null,
"aa_length": 2415,
"cds_start": 3717,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3630C>G",
"hgvs_p": "p.Val1210Val",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 2386,
"cds_start": 3630,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 3933,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3498C>G",
"hgvs_p": "p.Val1166Val",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 2342,
"cds_start": 3498,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3498C>G",
"hgvs_p": "p.Val1166Val",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 2342,
"cds_start": 3498,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3471C>G",
"hgvs_p": "p.Val1157Val",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 2333,
"cds_start": 3471,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3468C>G",
"hgvs_p": "p.Val1156Val",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 2332,
"cds_start": 3468,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 10807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3468C>G",
"hgvs_p": "p.Val1156Val",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 2332,
"cds_start": 3468,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3429C>G",
"hgvs_p": "p.Val1143Val",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 2319,
"cds_start": 3429,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 3732,
"cdna_end": null,
"cdna_length": 10151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3408C>G",
"hgvs_p": "p.Val1136Val",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 2312,
"cds_start": 3408,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.Val363Val",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 1539,
"cds_start": 1089,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.Val363Val",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 1539,
"cds_start": 1089,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Val310Val",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1486,
"cds_start": 930,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.909C>G",
"hgvs_p": "p.Val303Val",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 1479,
"cds_start": 909,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.543C>G",
"hgvs_p": "p.Val181Val",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 1348,
"cds_start": 543,
"cds_end": null,
"cds_length": 4048,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1602C>G",
"hgvs_p": "p.Val534Val",
"transcript": "ENST00000319584.11",
"protein_id": "ENSP00000313006.7",
"transcript_support_level": 2,
"aa_start": 534,
"aa_end": null,
"aa_length": 727,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.381C>G",
"hgvs_p": "p.Val127Val",
"transcript": "ENST00000400790.3",
"protein_id": "ENSP00000383596.3",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 273,
"cds_start": 381,
"cds_end": null,
"cds_length": 822,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3798C>G",
"hgvs_p": "p.Val1266Val",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 2442,
"cds_start": 3798,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3759C>G",
"hgvs_p": "p.Val1253Val",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 2429,
"cds_start": 3759,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 4062,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Val1252Val",
"transcript": "XM_047419131.1",
"protein_id": "XP_047275087.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 2428,
"cds_start": 3756,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 4059,
"cdna_end": null,
"cdna_length": 10478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3669C>G",
"hgvs_p": "p.Val1223Val",
"transcript": "XM_017011104.2",
"protein_id": "XP_016866593.2",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 2399,
"cds_start": 3669,
"cds_end": null,
"cds_length": 7200,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 10391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3639C>G",
"hgvs_p": "p.Val1213Val",
"transcript": "XM_017011105.3",
"protein_id": "XP_016866594.2",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 2389,
"cds_start": 3639,
"cds_end": null,
"cds_length": 7170,
"cdna_start": 3942,
"cdna_end": null,
"cdna_length": 10361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3627C>G",
"hgvs_p": "p.Val1209Val",
"transcript": "XM_047419134.1",
"protein_id": "XP_047275090.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 2385,
"cds_start": 3627,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 10349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3618C>G",
"hgvs_p": "p.Val1206Val",
"transcript": "XM_047419135.1",
"protein_id": "XP_047275091.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 2382,
"cds_start": 3618,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 3921,
"cdna_end": null,
"cdna_length": 10340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3600C>G",
"hgvs_p": "p.Val1200Val",
"transcript": "XM_047419136.1",
"protein_id": "XP_047275092.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 2376,
"cds_start": 3600,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 10322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3597C>G",
"hgvs_p": "p.Val1199Val",
"transcript": "XM_047419137.1",
"protein_id": "XP_047275093.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 2375,
"cds_start": 3597,
"cds_end": null,
"cds_length": 7128,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3579C>G",
"hgvs_p": "p.Val1193Val",
"transcript": "XM_047419138.1",
"protein_id": "XP_047275094.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2369,
"cds_start": 3579,
"cds_end": null,
"cds_length": 7110,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 10301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3558C>G",
"hgvs_p": "p.Val1186Val",
"transcript": "XM_047419140.1",
"protein_id": "XP_047275096.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 2362,
"cds_start": 3558,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 10280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3537C>G",
"hgvs_p": "p.Val1179Val",
"transcript": "XM_047419141.1",
"protein_id": "XP_047275097.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 2355,
"cds_start": 3537,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 10259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3510C>G",
"hgvs_p": "p.Val1170Val",
"transcript": "XM_017011106.3",
"protein_id": "XP_016866595.2",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 2346,
"cds_start": 3510,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 10232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3489C>G",
"hgvs_p": "p.Val1163Val",
"transcript": "XM_017011107.3",
"protein_id": "XP_016866596.2",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 2339,
"cds_start": 3489,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3450C>G",
"hgvs_p": "p.Val1150Val",
"transcript": "XM_047419144.1",
"protein_id": "XP_047275100.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2326,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6981,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 10172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3447C>G",
"hgvs_p": "p.Val1149Val",
"transcript": "XM_047419145.1",
"protein_id": "XP_047275101.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 2325,
"cds_start": 3447,
"cds_end": null,
"cds_length": 6978,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 10169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3420C>G",
"hgvs_p": "p.Val1140Val",
"transcript": "XM_047419146.1",
"protein_id": "XP_047275102.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 2316,
"cds_start": 3420,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3378C>G",
"hgvs_p": "p.Val1126Val",
"transcript": "XM_047419148.1",
"protein_id": "XP_047275104.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 2302,
"cds_start": 3378,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 3681,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3339C>G",
"hgvs_p": "p.Val1113Val",
"transcript": "XM_047419149.1",
"protein_id": "XP_047275105.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 2289,
"cds_start": 3339,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 10061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3330C>G",
"hgvs_p": "p.Val1110Val",
"transcript": "XM_047419150.1",
"protein_id": "XP_047275106.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 2286,
"cds_start": 3330,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3288C>G",
"hgvs_p": "p.Val1096Val",
"transcript": "XM_047419151.1",
"protein_id": "XP_047275107.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 2272,
"cds_start": 3288,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 10010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3249C>G",
"hgvs_p": "p.Val1083Val",
"transcript": "XM_047419152.1",
"protein_id": "XP_047275108.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 2259,
"cds_start": 3249,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Val534Val",
"transcript": "XM_047419153.1",
"protein_id": "XP_047275109.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1602,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 8120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Val438Val",
"transcript": "XM_047419154.1",
"protein_id": "XP_047275110.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1614,
"cds_start": 1314,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3798C>G",
"hgvs_p": "p.Val1266Val",
"transcript": "XM_047419155.1",
"protein_id": "XP_047275111.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3798,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Val160Val",
"transcript": "XM_011535988.4",
"protein_id": "XP_011534290.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1336,
"cds_start": 480,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 6991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.321C>G",
"hgvs_p": "p.Val107Val",
"transcript": "XM_047419156.1",
"protein_id": "XP_047275112.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 1283,
"cds_start": 321,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 413,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.1585C>G",
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*581C>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.254C>G",
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*581C>G",
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*58C>G",
"hgvs_p": null,
"transcript": "ENST00000478761.4",
"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": 318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs371828409",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.453,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3588C>G",
"hgvs_p": "p.Val1196Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}