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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: 6-157203912-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157203912&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157203912,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5310T>C",
"hgvs_p": "p.Leu1770Leu",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 1770,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5310,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5613,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5310T>C",
"hgvs_p": "p.Leu1770Leu",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 1770,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5310,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5613,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5190T>C",
"hgvs_p": "p.Leu1730Leu",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5190,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6116,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5151T>C",
"hgvs_p": "p.Leu1717Leu",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5151,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 5151,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2652T>C",
"hgvs_p": "p.Leu884Leu",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2652,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5439T>C",
"hgvs_p": "p.Leu1813Leu",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5439,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 5742,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5439T>C",
"hgvs_p": "p.Leu1813Leu",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5439,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 5439,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5352T>C",
"hgvs_p": "p.Leu1784Leu",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 2386,
"cds_start": 5352,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 5655,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5220T>C",
"hgvs_p": "p.Leu1740Leu",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5220,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5523,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5220T>C",
"hgvs_p": "p.Leu1740Leu",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 1740,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5220,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5220,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5193T>C",
"hgvs_p": "p.Leu1731Leu",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 1731,
"aa_end": null,
"aa_length": 2333,
"cds_start": 5193,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5190T>C",
"hgvs_p": "p.Leu1730Leu",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5190,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6110,
"cdna_end": null,
"cdna_length": 10807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5190T>C",
"hgvs_p": "p.Leu1730Leu",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5190,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 5493,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5151T>C",
"hgvs_p": "p.Leu1717Leu",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5151,
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"cds_length": 6960,
"cdna_start": 5454,
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"cdna_length": 10151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5130T>C",
"hgvs_p": "p.Leu1710Leu",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 2312,
"cds_start": 5130,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 5433,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2811T>C",
"hgvs_p": "p.Leu937Leu",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2811,
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"cdna_start": 3200,
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"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2811T>C",
"hgvs_p": "p.Leu937Leu",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 937,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2811,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2652T>C",
"hgvs_p": "p.Leu884Leu",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2652,
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"cdna_start": 3041,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2631T>C",
"hgvs_p": "p.Leu877Leu",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
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"cdna_start": 3218,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2262T>C",
"hgvs_p": "p.Leu754Leu",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 754,
"aa_end": null,
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"cds_start": 2262,
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"cdna_start": 2262,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5520T>C",
"hgvs_p": "p.Leu1840Leu",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5520,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 5823,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5481T>C",
"hgvs_p": "p.Leu1827Leu",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2429,
"cds_start": 5481,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 5784,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
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},
{
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"canonical": false,
"protein_coding": false,
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},
{
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},
{
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"protein_coding": false,
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"consequences": [
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],
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"exon_count": 11,
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"gene_symbol": "ARID1B",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
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"gene_symbol": "ARID1B",
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},
{
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"strand": true,
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],
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},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ARID1B",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"gene_symbol": "ARID1B",
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"transcript": "ENST00000637568.1",
"protein_id": "ENSP00000490511.1",
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}
],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs372621575",
"frequency_reference_population": 0.000086730375,
"hom_count_reference_population": 2,
"allele_count_reference_population": 140,
"gnomad_exomes_af": 0.0000902963,
"gnomad_genomes_af": 0.0000525127,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.301,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2_Supporting",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5310T>C",
"hgvs_p": "p.Leu1770Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}