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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: 21-37505459-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=37505459&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 37505459,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000647188.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "NM_001347721.2",
"protein_id": "NP_001334650.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 17024,
"mane_select": "ENST00000647188.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "ENST00000647188.2",
"protein_id": "ENSP00000494572.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 17024,
"mane_select": "NM_001347721.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000398960.7",
"protein_id": "ENSP00000381932.2",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 763,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000338785.8",
"protein_id": "ENSP00000342690.3",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 584,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000398956.2",
"protein_id": "ENSP00000381929.2",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 529,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "NM_001396.5",
"protein_id": "NP_001387.2",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 763,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 16457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000644942.1",
"protein_id": "ENSP00000494544.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 763,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "NM_001347722.2",
"protein_id": "NP_001334651.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 16281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "NM_130436.2",
"protein_id": "NP_569120.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 6580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "ENST00000643624.1",
"protein_id": "ENSP00000493627.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "ENST00000646548.1",
"protein_id": "ENSP00000495908.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 17562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "ENST00000647425.1",
"protein_id": "ENSP00000496748.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 754,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Tyr434Tyr",
"transcript": "NM_001347723.2",
"protein_id": "NP_001334652.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 725,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 16938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Tyr434Tyr",
"transcript": "ENST00000647504.1",
"protein_id": "ENSP00000495571.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 725,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 5591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000646523.1",
"protein_id": "ENSP00000495632.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 604,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "NM_101395.2",
"protein_id": "NP_567824.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 584,
"cds_start": 1416,
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"cdna_start": 1665,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "NM_130438.2",
"protein_id": "NP_569122.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 529,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1416T>C",
"hgvs_p": "p.Tyr472Tyr",
"transcript": "ENST00000645424.1",
"protein_id": "ENSP00000494897.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 525,
"cds_start": 1416,
"cds_end": null,
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"cdna_start": 1492,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Tyr488Tyr",
"transcript": "ENST00000645774.1",
"protein_id": "ENSP00000494536.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
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"cds_start": 1464,
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"cdna_start": 1669,
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"mane_select": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "n.780T>C",
"hgvs_p": null,
"transcript": "ENST00000644367.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "n.831T>C",
"hgvs_p": null,
"transcript": "ENST00000646224.1",
"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": 1735,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "n.4134T>C",
"hgvs_p": null,
"transcript": "ENST00000646351.1",
"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": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000642309.1",
"protein_id": "ENSP00000495596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000643854.1",
"protein_id": "ENSP00000493653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000643808.1",
"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": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"dbsnp": "rs55854596",
"frequency_reference_population": 0.0057377345,
"hom_count_reference_population": 59,
"allele_count_reference_population": 9262,
"gnomad_exomes_af": 0.00578501,
"gnomad_genomes_af": 0.00528409,
"gnomad_exomes_ac": 8457,
"gnomad_genomes_ac": 805,
"gnomad_exomes_homalt": 54,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.559,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647188.2",
"gene_symbol": "DYRK1A",
"hgnc_id": 3091,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr"
}
],
"clinvar_disease": "DYRK1A-related intellectual disability syndrome,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|DYRK1A-related intellectual disability syndrome|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}