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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-156778889-CGGAGGAGGAGGAGGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=156778889&ref=CGGAGGAGGAGGAGGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 156778889,
"ref": "CGGAGGAGGAGGAGGA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2372,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 2372,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 2332,
"cds_start": 1220,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 2319,
"cds_start": 1220,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2415,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 407,
"aa_end": null,
"aa_length": 2415,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2386,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2342,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 407,
"aa_end": null,
"aa_length": 2342,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2333,
"cds_start": 1220,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2332,
"cds_start": 1220,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 2140,
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"cdna_length": 10807,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2332,
"cds_start": 1220,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 1523,
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"cdna_length": 10190,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2319,
"cds_start": 1220,
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"cdna_start": 1523,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2312,
"cds_start": 1220,
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"cds_length": 6939,
"cdna_start": 1523,
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"cdna_length": 10130,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438489.1",
"protein_id": "NP_001425418.1",
"transcript_support_level": null,
"aa_start": 407,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438490.1",
"protein_id": "NP_001425419.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 764,
"cds_start": 1220,
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"cdna_start": 1523,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438491.1",
"protein_id": "NP_001425420.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 759,
"cds_start": 1220,
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"cdna_start": 1523,
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"cdna_length": 3897,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "NM_001438492.1",
"protein_id": "NP_001425421.1",
"transcript_support_level": null,
"aa_start": 407,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.959_973delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly320_Gly324del",
"transcript": "ENST00000674298.1",
"protein_id": "ENSP00000501338.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 678,
"cds_start": 959,
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"cdna_start": 960,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2442,
"cds_start": 1220,
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"cdna_start": 1523,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2429,
"cds_start": 1220,
"cds_end": null,
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"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGGGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs747790383",
"frequency_reference_population": 0.000005122441,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000490375,
"gnomad_genomes_af": 0.00000699389,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.181,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "BS2_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1220_1234delGAGGAGGAGGAGGAG",
"hgvs_p": "p.Gly407_Gly411del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000743650.1",
"gene_symbol": "ENSG00000296922",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.76+1038_76+1052delTCCTCCTCCTCCTCC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}