← 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: 6-157207063-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157207063&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157207063,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6291C>G",
"hgvs_p": "p.Ile2097Met",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6291,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6594,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6291C>G",
"hgvs_p": "p.Ile2097Met",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6291,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6594,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6171C>G",
"hgvs_p": "p.Ile2057Met",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 7097,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6132C>G",
"hgvs_p": "p.Ile2044Met",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6132,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3633C>G",
"hgvs_p": "p.Ile1211Met",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6420C>G",
"hgvs_p": "p.Ile2140Met",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 2140,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6420,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6723,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6420C>G",
"hgvs_p": "p.Ile2140Met",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 2140,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6420,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6420,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6333C>G",
"hgvs_p": "p.Ile2111Met",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2386,
"cds_start": 6333,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 6636,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6201C>G",
"hgvs_p": "p.Ile2067Met",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6201,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6504,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6201C>G",
"hgvs_p": "p.Ile2067Met",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6201,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6201,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6174C>G",
"hgvs_p": "p.Ile2058Met",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6174,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 6477,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6171C>G",
"hgvs_p": "p.Ile2057Met",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 7091,
"cdna_end": null,
"cdna_length": 10807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6171C>G",
"hgvs_p": "p.Ile2057Met",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6474,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6132C>G",
"hgvs_p": "p.Ile2044Met",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6435,
"cdna_end": null,
"cdna_length": 10151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6111C>G",
"hgvs_p": "p.Ile2037Met",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2312,
"cds_start": 6111,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 6414,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3792C>G",
"hgvs_p": "p.Ile1264Met",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4181,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3792C>G",
"hgvs_p": "p.Ile1264Met",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4293,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3633C>G",
"hgvs_p": "p.Ile1211Met",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3612C>G",
"hgvs_p": "p.Ile1204Met",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1479,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 4199,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3243C>G",
"hgvs_p": "p.Ile1081Met",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3243,
"cds_end": null,
"cds_length": 4048,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Ile149Met",
"transcript": "ENST00000635928.1",
"protein_id": "ENSP00000489717.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 312,
"cds_start": 447,
"cds_end": null,
"cds_length": 939,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6501C>G",
"hgvs_p": "p.Ile2167Met",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 2167,
"aa_end": null,
"aa_length": 2442,
"cds_start": 6501,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6804,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6462C>G",
"hgvs_p": "p.Ile2154Met",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 2154,
"aa_end": null,
"aa_length": 2429,
"cds_start": 6462,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 6765,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6459C>G",
"hgvs_p": "p.Ile2153Met",
"transcript": "XM_047419131.1",
"protein_id": "XP_047275087.1",
"transcript_support_level": null,
"aa_start": 2153,
"aa_end": null,
"aa_length": 2428,
"cds_start": 6459,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 6762,
"cdna_end": null,
"cdna_length": 10478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6372C>G",
"hgvs_p": "p.Ile2124Met",
"transcript": "XM_017011104.2",
"protein_id": "XP_016866593.2",
"transcript_support_level": null,
"aa_start": 2124,
"aa_end": null,
"aa_length": 2399,
"cds_start": 6372,
"cds_end": null,
"cds_length": 7200,
"cdna_start": 6675,
"cdna_end": null,
"cdna_length": 10391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6342C>G",
"hgvs_p": "p.Ile2114Met",
"transcript": "XM_017011105.3",
"protein_id": "XP_016866594.2",
"transcript_support_level": null,
"aa_start": 2114,
"aa_end": null,
"aa_length": 2389,
"cds_start": 6342,
"cds_end": null,
"cds_length": 7170,
"cdna_start": 6645,
"cdna_end": null,
"cdna_length": 10361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6330C>G",
"hgvs_p": "p.Ile2110Met",
"transcript": "XM_047419134.1",
"protein_id": "XP_047275090.1",
"transcript_support_level": null,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2385,
"cds_start": 6330,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 6633,
"cdna_end": null,
"cdna_length": 10349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6321C>G",
"hgvs_p": "p.Ile2107Met",
"transcript": "XM_047419135.1",
"protein_id": "XP_047275091.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2382,
"cds_start": 6321,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6624,
"cdna_end": null,
"cdna_length": 10340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6303C>G",
"hgvs_p": "p.Ile2101Met",
"transcript": "XM_047419136.1",
"protein_id": "XP_047275092.1",
"transcript_support_level": null,
"aa_start": 2101,
"aa_end": null,
"aa_length": 2376,
"cds_start": 6303,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 6606,
"cdna_end": null,
"cdna_length": 10322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6300C>G",
"hgvs_p": "p.Ile2100Met",
"transcript": "XM_047419137.1",
"protein_id": "XP_047275093.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2375,
"cds_start": 6300,
"cds_end": null,
"cds_length": 7128,
"cdna_start": 6603,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6282C>G",
"hgvs_p": "p.Ile2094Met",
"transcript": "XM_047419138.1",
"protein_id": "XP_047275094.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2369,
"cds_start": 6282,
"cds_end": null,
"cds_length": 7110,
"cdna_start": 6585,
"cdna_end": null,
"cdna_length": 10301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6261C>G",
"hgvs_p": "p.Ile2087Met",
"transcript": "XM_047419140.1",
"protein_id": "XP_047275096.1",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2362,
"cds_start": 6261,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 6564,
"cdna_end": null,
"cdna_length": 10280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6240C>G",
"hgvs_p": "p.Ile2080Met",
"transcript": "XM_047419141.1",
"protein_id": "XP_047275097.1",
"transcript_support_level": null,
"aa_start": 2080,
"aa_end": null,
"aa_length": 2355,
"cds_start": 6240,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 6543,
"cdna_end": null,
"cdna_length": 10259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6213C>G",
"hgvs_p": "p.Ile2071Met",
"transcript": "XM_017011106.3",
"protein_id": "XP_016866595.2",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6213,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 6516,
"cdna_end": null,
"cdna_length": 10232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6192C>G",
"hgvs_p": "p.Ile2064Met",
"transcript": "XM_017011107.3",
"protein_id": "XP_016866596.2",
"transcript_support_level": null,
"aa_start": 2064,
"aa_end": null,
"aa_length": 2339,
"cds_start": 6192,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 6495,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6153C>G",
"hgvs_p": "p.Ile2051Met",
"transcript": "XM_047419144.1",
"protein_id": "XP_047275100.1",
"transcript_support_level": null,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2326,
"cds_start": 6153,
"cds_end": null,
"cds_length": 6981,
"cdna_start": 6456,
"cdna_end": null,
"cdna_length": 10172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6150C>G",
"hgvs_p": "p.Ile2050Met",
"transcript": "XM_047419145.1",
"protein_id": "XP_047275101.1",
"transcript_support_level": null,
"aa_start": 2050,
"aa_end": null,
"aa_length": 2325,
"cds_start": 6150,
"cds_end": null,
"cds_length": 6978,
"cdna_start": 6453,
"cdna_end": null,
"cdna_length": 10169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6123C>G",
"hgvs_p": "p.Ile2041Met",
"transcript": "XM_047419146.1",
"protein_id": "XP_047275102.1",
"transcript_support_level": null,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6123,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 6426,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6081C>G",
"hgvs_p": "p.Ile2027Met",
"transcript": "XM_047419148.1",
"protein_id": "XP_047275104.1",
"transcript_support_level": null,
"aa_start": 2027,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6081,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 6384,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6042C>G",
"hgvs_p": "p.Ile2014Met",
"transcript": "XM_047419149.1",
"protein_id": "XP_047275105.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2289,
"cds_start": 6042,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 6345,
"cdna_end": null,
"cdna_length": 10061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.6033C>G",
"hgvs_p": "p.Ile2011Met",
"transcript": "XM_047419150.1",
"protein_id": "XP_047275106.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2286,
"cds_start": 6033,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 6336,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5991C>G",
"hgvs_p": "p.Ile1997Met",
"transcript": "XM_047419151.1",
"protein_id": "XP_047275107.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2272,
"cds_start": 5991,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 6294,
"cdna_end": null,
"cdna_length": 10010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5952C>G",
"hgvs_p": "p.Ile1984Met",
"transcript": "XM_047419152.1",
"protein_id": "XP_047275108.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 2259,
"cds_start": 5952,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4305C>G",
"hgvs_p": "p.Ile1435Met",
"transcript": "XM_047419153.1",
"protein_id": "XP_047275109.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4305,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 8120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4017C>G",
"hgvs_p": "p.Ile1339Met",
"transcript": "XM_047419154.1",
"protein_id": "XP_047275110.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4017,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3183C>G",
"hgvs_p": "p.Ile1061Met",
"transcript": "XM_011535988.4",
"protein_id": "XP_011534290.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3183,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 6991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3024C>G",
"hgvs_p": "p.Ile1008Met",
"transcript": "XM_047419156.1",
"protein_id": "XP_047275112.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3116,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.4754C>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.2211C>G",
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.4288C>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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*3284C>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.2957C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.3406C>G",
"hgvs_p": null,
"transcript": "ENST00000637933.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 5043,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.*3284C>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
}
],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs112703040",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30830255150794983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.2126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.332,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6291C>G",
"hgvs_p": "p.Ile2097Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}