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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: 19-11060049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11060049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11060049,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000344626.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4869G>A",
"hgvs_p": "p.Arg1623Arg",
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4869,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 5042,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4869G>A",
"hgvs_p": "p.Arg1623Arg",
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4869,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 5042,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Arg1591Arg",
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4773,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Arg1591Arg",
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4773,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4779G>A",
"hgvs_p": "p.Arg1593Arg",
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": 1593,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4779,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 5050,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4683G>A",
"hgvs_p": "p.Arg1561Arg",
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4683,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4968,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4683G>A",
"hgvs_p": "p.Arg1561Arg",
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4683,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4932,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4683G>A",
"hgvs_p": "p.Arg1561Arg",
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4683,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4680G>A",
"hgvs_p": "p.Arg1560Arg",
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4680,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 5010,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4194G>A",
"hgvs_p": "p.Arg1398Arg",
"transcript": "ENST00000643995.1",
"protein_id": "ENSP00000496004.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4194,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4196,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3423G>A",
"hgvs_p": "p.Arg1141Arg",
"transcript": "ENST00000644963.1",
"protein_id": "ENSP00000495599.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3424,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3405G>A",
"hgvs_p": "p.Arg1135Arg",
"transcript": "ENST00000644065.1",
"protein_id": "ENSP00000493615.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3407,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3267G>A",
"hgvs_p": "p.Arg1089Arg",
"transcript": "ENST00000642350.1",
"protein_id": "ENSP00000495355.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3267,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3033G>A",
"hgvs_p": "p.Arg1011Arg",
"transcript": "ENST00000643857.1",
"protein_id": "ENSP00000494159.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.837G>A",
"hgvs_p": "p.Arg279Arg",
"transcript": "ENST00000538456.4",
"protein_id": "ENSP00000495197.1",
"transcript_support_level": 3,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 837,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1108,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.3014G>A",
"hgvs_p": null,
"transcript": "ENST00000592604.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4869G>A",
"hgvs_p": "p.Arg1623Arg",
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4869,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 5045,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4869G>A",
"hgvs_p": "p.Arg1623Arg",
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4869,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 5117,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Arg1591Arg",
"transcript": "NM_001128844.3",
"protein_id": "NP_001122316.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4773,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Arg1591Arg",
"transcript": "ENST00000429416.8",
"protein_id": "ENSP00000395654.1",
"transcript_support_level": 2,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4773,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 5054,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4770G>A",
"hgvs_p": "p.Arg1590Arg",
"transcript": "NM_001411150.1",
"protein_id": "NP_001398079.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4770,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4770G>A",
"hgvs_p": "p.Arg1590Arg",
"transcript": "ENST00000642628.1",
"protein_id": "ENSP00000496498.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4770,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 5019,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
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"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*2450G>A",
"hgvs_p": null,
"transcript": "ENST00000646593.1",
"protein_id": "ENSP00000494341.1",
"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": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*270G>A",
"hgvs_p": null,
"transcript": "ENST00000704344.1",
"protein_id": "ENSP00000515855.1",
"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": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*654G>A",
"hgvs_p": null,
"transcript": "ENST00000645387.1",
"protein_id": "ENSP00000496135.1",
"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": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"dbsnp": "rs568650875",
"frequency_reference_population": 0.00019323053,
"hom_count_reference_population": 2,
"allele_count_reference_population": 302,
"gnomad_exomes_af": 0.000199922,
"gnomad_genomes_af": 0.000131278,
"gnomad_exomes_ac": 282,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"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": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.049,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000344626.10",
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Arg1591Arg"
}
],
"clinvar_disease": " autosomal dominant 16,Hereditary cancer-predisposing syndrome,Intellectual disability,Rhabdoid tumor predisposition syndrome 2,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"phenotype_combined": "Rhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|not provided|Intellectual disability, autosomal dominant 16",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}