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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: 14-105368112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105368112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105368112,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000447393.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_001100913.3",
"protein_id": "NP_001094383.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 904,
"cds_start": 625,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": "ENST00000447393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000447393.6",
"protein_id": "ENSP00000393559.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 904,
"cds_start": 625,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": "NM_001100913.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000325438.12",
"protein_id": "ENSP00000321834.8",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 889,
"cds_start": 625,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000430725.6",
"protein_id": "ENSP00000393524.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 814,
"cds_start": 424,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_015197.4",
"protein_id": "NP_056012.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 889,
"cds_start": 625,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Glu179Lys",
"transcript": "ENST00000547217.5",
"protein_id": "ENSP00000449525.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 859,
"cds_start": 535,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "NM_001243127.3",
"protein_id": "NP_001230056.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 814,
"cds_start": 424,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_006720090.3",
"protein_id": "XP_006720153.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 905,
"cds_start": 625,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021105.3",
"protein_id": "XP_016876594.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 901,
"cds_start": 625,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021106.3",
"protein_id": "XP_016876595.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 900,
"cds_start": 625,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021107.3",
"protein_id": "XP_016876596.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 897,
"cds_start": 625,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021108.3",
"protein_id": "XP_016876597.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 896,
"cds_start": 625,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_006720091.3",
"protein_id": "XP_006720154.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 894,
"cds_start": 625,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021109.3",
"protein_id": "XP_016876598.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 893,
"cds_start": 625,
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"cdna_start": 796,
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"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_047431163.1",
"protein_id": "XP_047287119.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 892,
"cds_start": 625,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_017021110.3",
"protein_id": "XP_016876599.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
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"cds_start": 625,
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"cdna_start": 796,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_047431164.1",
"protein_id": "XP_047287120.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 882,
"cds_start": 625,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_006720092.4",
"protein_id": "XP_006720155.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 881,
"cds_start": 625,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 796,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "XM_017021112.3",
"protein_id": "XP_016876601.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 838,
"cds_start": 424,
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"cdna_start": 712,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "XM_017021111.3",
"protein_id": "XP_016876600.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 822,
"cds_start": 424,
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"cds_length": 2469,
"cdna_start": 712,
"cdna_end": 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": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.28G>A",
"hgvs_p": null,
"transcript": "ENST00000551692.5",
"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": 3453,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.331G>A",
"hgvs_p": null,
"transcript": "ENST00000552138.5",
"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": 765,
"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": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.625G>A",
"hgvs_p": null,
"transcript": "ENST00000685365.1",
"protein_id": "ENSP00000509432.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3274,
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"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": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.661G>A",
"hgvs_p": null,
"transcript": "ENST00000686173.1",
"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": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.*562G>A",
"hgvs_p": null,
"transcript": "ENST00000686461.1",
"protein_id": "ENSP00000510561.1",
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"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": 3402,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.374G>A",
"hgvs_p": null,
"transcript": "ENST00000693530.1",
"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": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "n.*562G>A",
"hgvs_p": null,
"transcript": "ENST00000686461.1",
"protein_id": "ENSP00000510561.1",
"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": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"dbsnp": "rs1555408401",
"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": 0.5296214818954468,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.9084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.67,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000447393.6",
"gene_symbol": "PACS2",
"hgnc_id": 23794,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys"
}
],
"clinvar_disease": " 1, 66,Developmental and epileptic encephalopathy,Inborn genetic diseases,Intellectual disability,PACS2-related disorder,See cases,Seizure,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:29 LP:1",
"phenotype_combined": "Intellectual disability|Developmental and epileptic encephalopathy, 66|not provided|Inborn genetic diseases|PACS2-related disorder|See cases|Developmental and epileptic encephalopathy, 1|Seizure",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}