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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: 6-156901439-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=156901439&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 156901439,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 2372,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 684,
"aa_end": null,
"aa_length": 2372,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2090dupA",
"hgvs_p": "p.Tyr697fs",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2091,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 2319,
"cds_start": 2052,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 2415,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 684,
"aa_end": null,
"aa_length": 2415,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 2386,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 684,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 2052,
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"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 2333,
"cds_start": 2052,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2090dupA",
"hgvs_p": "p.Tyr697fs",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2091,
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"cdna_start": 3011,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2090dupA",
"hgvs_p": "p.Tyr697fs",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2091,
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"cdna_start": 2394,
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"cdna_length": 10190,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
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"aa_start": 684,
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"aa_length": 2319,
"cds_start": 2052,
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"cdna_start": 2355,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "ARID1B",
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"hgvs_c": "c.2051dupA",
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"transcript": "NM_001438487.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438489.1",
"protein_id": "NP_001425418.1",
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},
{
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"strand": true,
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "ARID1B",
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"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438490.1",
"protein_id": "NP_001425419.1",
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438491.1",
"protein_id": "NP_001425420.1",
"transcript_support_level": null,
"aa_start": 684,
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"aa_length": 759,
"cds_start": 2052,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs",
"transcript": "NM_001438492.1",
"protein_id": "NP_001425421.1",
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},
{
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"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 1,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "ARID1B",
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"hgvs_c": "c.65dupA",
"hgvs_p": "p.Tyr22fs",
"transcript": "ENST00000319584.11",
"protein_id": "ENSP00000313006.7",
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},
{
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"protein_coding": true,
"strand": true,
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"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.1790dupA",
"hgvs_p": "p.Tyr597fs",
"transcript": "ENST00000674298.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.266dupA",
"hgvs_p": "p.Tyr89fs",
"transcript": "ENST00000638000.1",
"protein_id": "ENSP00000489982.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 190,
"cds_start": 267,
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"cdna_start": 269,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.332dupA",
"hgvs_p": "p.Tyr111fs",
"transcript": "ENST00000636748.1",
"protein_id": "ENSP00000489917.1",
"transcript_support_level": 2,
"aa_start": 111,
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"aa_length": 186,
"cds_start": 333,
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"cds_length": 561,
"cdna_start": 333,
"cdna_end": null,
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"mane_select": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2090dupA",
"hgvs_p": "p.Tyr697fs",
"transcript": "XM_047419155.1",
"protein_id": "XP_047275111.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1607,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 5661,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.114dupA",
"hgvs_p": null,
"transcript": "ENST00000636205.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "n.758dupA",
"hgvs_p": null,
"transcript": "ENST00000674190.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"dbsnp": "rs1554265275",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.278,
"phylop100way_prediction": "Uncertain_significance",
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2051dupA",
"hgvs_p": "p.Tyr684fs"
}
],
"clinvar_disease": "Coffin-Siris syndrome 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Coffin-Siris syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}