← 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: 6-157201466-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157201466&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"hgvs_c": "c.5370A>T",
"hgvs_p": "p.Arg1790Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001438482.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2372,
"aa_ref": "R",
"aa_start": 1747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 5544,
"cds_end": null,
"cds_length": 7119,
"cds_start": 5241,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001374828.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5241A>T",
"hgvs_p": "p.Arg1747Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000636930.2",
"protein_coding": true,
"protein_id": "NP_001361757.1",
"strand": true,
"transcript": "NM_001374828.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2372,
"aa_ref": "R",
"aa_start": 1747,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 5544,
"cds_end": null,
"cds_length": 7119,
"cds_start": 5241,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000636930.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5241A>T",
"hgvs_p": "p.Arg1747Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374828.1",
"protein_coding": true,
"protein_id": "ENSP00000490491.2",
"strand": true,
"transcript": "ENST00000636930.2",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10813,
"cdna_start": 6047,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5121,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000346085.10",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5121A>T",
"hgvs_p": "p.Arg1707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344546.5",
"strand": true,
"transcript": "ENST00000346085.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2319,
"aa_ref": "R",
"aa_start": 1694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8211,
"cdna_start": 5082,
"cds_end": null,
"cds_length": 6960,
"cds_start": 5082,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000350026.11",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5082A>T",
"hgvs_p": "p.Arg1694Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000055163.8",
"strand": true,
"transcript": "ENST00000350026.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "R",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 4461,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000637810.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2583A>T",
"hgvs_p": "p.Arg861Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489636.1",
"strand": true,
"transcript": "ENST00000637810.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2415,
"aa_ref": "R",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10439,
"cdna_start": 5673,
"cds_end": null,
"cds_length": 7248,
"cds_start": 5370,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001438482.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5370A>T",
"hgvs_p": "p.Arg1790Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425411.1",
"strand": true,
"transcript": "NM_001438482.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2415,
"aa_ref": "R",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8616,
"cdna_start": 5370,
"cds_end": null,
"cds_length": 7248,
"cds_start": 5370,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000637015.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5370A>T",
"hgvs_p": "p.Arg1790Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489729.2",
"strand": true,
"transcript": "ENST00000637015.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2386,
"aa_ref": "R",
"aa_start": 1761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10352,
"cdna_start": 5586,
"cds_end": null,
"cds_length": 7161,
"cds_start": 5283,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001438483.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5283A>T",
"hgvs_p": "p.Arg1761Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425412.1",
"strand": true,
"transcript": "NM_001438483.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2366,
"aa_ref": "R",
"aa_start": 1741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8568,
"cdna_start": 5322,
"cds_end": null,
"cds_length": 7101,
"cds_start": 5223,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000938503.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5223A>T",
"hgvs_p": "p.Arg1741Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608562.1",
"strand": true,
"transcript": "ENST00000938503.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "R",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10220,
"cdna_start": 5454,
"cds_end": null,
"cds_length": 7029,
"cds_start": 5151,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438485.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5151A>T",
"hgvs_p": "p.Arg1717Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425414.1",
"strand": true,
"transcript": "NM_001438485.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "R",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8280,
"cdna_start": 5151,
"cds_end": null,
"cds_length": 7029,
"cds_start": 5151,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000414678.8",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5151A>T",
"hgvs_p": "p.Arg1717Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412835.3",
"strand": true,
"transcript": "ENST00000414678.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2333,
"aa_ref": "R",
"aa_start": 1708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10193,
"cdna_start": 5427,
"cds_end": null,
"cds_length": 7002,
"cds_start": 5124,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001438486.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5124A>T",
"hgvs_p": "p.Arg1708Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425415.1",
"strand": true,
"transcript": "NM_001438486.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10807,
"cdna_start": 6041,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5121,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001371656.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5121A>T",
"hgvs_p": "p.Arg1707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358585.1",
"strand": true,
"transcript": "NM_001371656.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10190,
"cdna_start": 5424,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5121,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001374820.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5121A>T",
"hgvs_p": "p.Arg1707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361749.1",
"strand": true,
"transcript": "NM_001374820.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2319,
"aa_ref": "R",
"aa_start": 1694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10151,
"cdna_start": 5385,
"cds_end": null,
"cds_length": 6960,
"cds_start": 5082,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_017519.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5082A>T",
"hgvs_p": "p.Arg1694Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_059989.3",
"strand": true,
"transcript": "NM_017519.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2312,
"aa_ref": "R",
"aa_start": 1687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10130,
"cdna_start": 5364,
"cds_end": null,
"cds_length": 6939,
"cds_start": 5061,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438487.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5061A>T",
"hgvs_p": "p.Arg1687Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425416.1",
"strand": true,
"transcript": "NM_001438487.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": 3131,
"cds_end": null,
"cds_length": 4620,
"cds_start": 2742,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001363725.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2742A>T",
"hgvs_p": "p.Arg914Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350654.1",
"strand": true,
"transcript": "NM_001363725.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 3243,
"cds_end": null,
"cds_length": 4620,
"cds_start": 2742,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000637904.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2742A>T",
"hgvs_p": "p.Arg914Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490550.1",
"strand": true,
"transcript": "ENST00000637904.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "R",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7738,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 4461,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001438488.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2583A>T",
"hgvs_p": "p.Arg861Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425417.1",
"strand": true,
"transcript": "NM_001438488.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2562,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000635849.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2562A>T",
"hgvs_p": "p.Arg854Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490948.1",
"strand": true,
"transcript": "ENST00000635849.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 4048,
"cds_start": 2193,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635957.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2193A>T",
"hgvs_p": "p.Arg731Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490385.1",
"strand": true,
"transcript": "ENST00000635957.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2442,
"aa_ref": "R",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10520,
"cdna_start": 5754,
"cds_end": null,
"cds_length": 7329,
"cds_start": 5451,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011535984.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5451A>T",
"hgvs_p": "p.Arg1817Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534286.3",
"strand": true,
"transcript": "XM_011535984.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2429,
"aa_ref": "R",
"aa_start": 1804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10481,
"cdna_start": 5715,
"cds_end": null,
"cds_length": 7290,
"cds_start": 5412,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419130.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5412A>T",
"hgvs_p": "p.Arg1804Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275086.1",
"strand": true,
"transcript": "XM_047419130.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2428,
"aa_ref": "R",
"aa_start": 1803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10478,
"cdna_start": 5712,
"cds_end": null,
"cds_length": 7287,
"cds_start": 5409,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419131.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5409A>T",
"hgvs_p": "p.Arg1803Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275087.1",
"strand": true,
"transcript": "XM_047419131.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2399,
"aa_ref": "R",
"aa_start": 1774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10391,
"cdna_start": 5625,
"cds_end": null,
"cds_length": 7200,
"cds_start": 5322,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017011104.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5322A>T",
"hgvs_p": "p.Arg1774Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866593.2",
"strand": true,
"transcript": "XM_017011104.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2389,
"aa_ref": "R",
"aa_start": 1764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10361,
"cdna_start": 5595,
"cds_end": null,
"cds_length": 7170,
"cds_start": 5292,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017011105.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5292A>T",
"hgvs_p": "p.Arg1764Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866594.2",
"strand": true,
"transcript": "XM_017011105.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2385,
"aa_ref": "R",
"aa_start": 1760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10349,
"cdna_start": 5583,
"cds_end": null,
"cds_length": 7158,
"cds_start": 5280,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419134.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5280A>T",
"hgvs_p": "p.Arg1760Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275090.1",
"strand": true,
"transcript": "XM_047419134.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2382,
"aa_ref": "R",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10340,
"cdna_start": 5574,
"cds_end": null,
"cds_length": 7149,
"cds_start": 5271,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419135.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5271A>T",
"hgvs_p": "p.Arg1757Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275091.1",
"strand": true,
"transcript": "XM_047419135.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2376,
"aa_ref": "R",
"aa_start": 1751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10322,
"cdna_start": 5556,
"cds_end": null,
"cds_length": 7131,
"cds_start": 5253,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419136.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5253A>T",
"hgvs_p": "p.Arg1751Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275092.1",
"strand": true,
"transcript": "XM_047419136.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2375,
"aa_ref": "R",
"aa_start": 1750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10319,
"cdna_start": 5553,
"cds_end": null,
"cds_length": 7128,
"cds_start": 5250,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419137.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5250A>T",
"hgvs_p": "p.Arg1750Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275093.1",
"strand": true,
"transcript": "XM_047419137.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2369,
"aa_ref": "R",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10301,
"cdna_start": 5535,
"cds_end": null,
"cds_length": 7110,
"cds_start": 5232,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419138.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5232A>T",
"hgvs_p": "p.Arg1744Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275094.1",
"strand": true,
"transcript": "XM_047419138.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2362,
"aa_ref": "R",
"aa_start": 1737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10280,
"cdna_start": 5514,
"cds_end": null,
"cds_length": 7089,
"cds_start": 5211,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419140.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5211A>T",
"hgvs_p": "p.Arg1737Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275096.1",
"strand": true,
"transcript": "XM_047419140.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2355,
"aa_ref": "R",
"aa_start": 1730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10259,
"cdna_start": 5493,
"cds_end": null,
"cds_length": 7068,
"cds_start": 5190,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419141.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5190A>T",
"hgvs_p": "p.Arg1730Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275097.1",
"strand": true,
"transcript": "XM_047419141.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2346,
"aa_ref": "R",
"aa_start": 1721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10232,
"cdna_start": 5466,
"cds_end": null,
"cds_length": 7041,
"cds_start": 5163,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017011106.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5163A>T",
"hgvs_p": "p.Arg1721Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866595.2",
"strand": true,
"transcript": "XM_017011106.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2339,
"aa_ref": "R",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10211,
"cdna_start": 5445,
"cds_end": null,
"cds_length": 7020,
"cds_start": 5142,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017011107.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5142A>T",
"hgvs_p": "p.Arg1714Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866596.2",
"strand": true,
"transcript": "XM_017011107.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2326,
"aa_ref": "R",
"aa_start": 1701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10172,
"cdna_start": 5406,
"cds_end": null,
"cds_length": 6981,
"cds_start": 5103,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419144.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5103A>T",
"hgvs_p": "p.Arg1701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275100.1",
"strand": true,
"transcript": "XM_047419144.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2325,
"aa_ref": "R",
"aa_start": 1700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10169,
"cdna_start": 5403,
"cds_end": null,
"cds_length": 6978,
"cds_start": 5100,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419145.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5100A>T",
"hgvs_p": "p.Arg1700Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275101.1",
"strand": true,
"transcript": "XM_047419145.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2316,
"aa_ref": "R",
"aa_start": 1691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10142,
"cdna_start": 5376,
"cds_end": null,
"cds_length": 6951,
"cds_start": 5073,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419146.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5073A>T",
"hgvs_p": "p.Arg1691Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275102.1",
"strand": true,
"transcript": "XM_047419146.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2302,
"aa_ref": "R",
"aa_start": 1677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10100,
"cdna_start": 5334,
"cds_end": null,
"cds_length": 6909,
"cds_start": 5031,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419148.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5031A>T",
"hgvs_p": "p.Arg1677Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275104.1",
"strand": true,
"transcript": "XM_047419148.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2289,
"aa_ref": "R",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10061,
"cdna_start": 5295,
"cds_end": null,
"cds_length": 6870,
"cds_start": 4992,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419149.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.4992A>T",
"hgvs_p": "p.Arg1664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275105.1",
"strand": true,
"transcript": "XM_047419149.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2286,
"aa_ref": "R",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10052,
"cdna_start": 5286,
"cds_end": null,
"cds_length": 6861,
"cds_start": 4983,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419150.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.4983A>T",
"hgvs_p": "p.Arg1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275106.1",
"strand": true,
"transcript": "XM_047419150.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2272,
"aa_ref": "R",
"aa_start": 1647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10010,
"cdna_start": 5244,
"cds_end": null,
"cds_length": 6819,
"cds_start": 4941,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419151.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.4941A>T",
"hgvs_p": "p.Arg1647Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275107.1",
"strand": true,
"transcript": "XM_047419151.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2259,
"aa_ref": "R",
"aa_start": 1634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9971,
"cdna_start": 5205,
"cds_end": null,
"cds_length": 6780,
"cds_start": 4902,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419152.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.4902A>T",
"hgvs_p": "p.Arg1634Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275108.1",
"strand": true,
"transcript": "XM_047419152.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1710,
"aa_ref": "R",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8120,
"cdna_start": 3354,
"cds_end": null,
"cds_length": 5133,
"cds_start": 3255,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419153.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3255A>T",
"hgvs_p": "p.Arg1085Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275109.1",
"strand": true,
"transcript": "XM_047419153.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1614,
"aa_ref": "R",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7831,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 4845,
"cds_start": 2967,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419154.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2967A>T",
"hgvs_p": "p.Arg989Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275110.1",
"strand": true,
"transcript": "XM_047419154.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6991,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 4011,
"cds_start": 2133,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011535988.4",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2133A>T",
"hgvs_p": "p.Arg711Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534290.1",
"strand": true,
"transcript": "XM_011535988.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "R",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6832,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 3852,
"cds_start": 1974,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047419156.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.1974A>T",
"hgvs_p": "p.Arg658Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275112.1",
"strand": true,
"transcript": "XM_047419156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1607,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": null,
"cds_end": null,
"cds_length": 4824,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419155.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.*530A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275111.1",
"strand": true,
"transcript": "XM_047419155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636227.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.3704A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636227.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000636254.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.1161A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636254.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5910,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636940.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.3238A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636940.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000637568.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.*2234A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490511.1",
"strand": true,
"transcript": "ENST00000637568.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637741.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.1907A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000637741.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000637568.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "n.*2234A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490511.1",
"strand": true,
"transcript": "ENST00000637568.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.243,
"pos": 157201466,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001438482.1"
}
]
}