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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: 14-50359092-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50359092&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50359092,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004196.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_004196.7",
"protein_id": "NP_004187.3",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": "ENST00000395834.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004196.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000395834.6",
"protein_id": "ENSP00000379176.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": "NM_004196.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395834.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Leu77Val",
"transcript": "ENST00000216378.2",
"protein_id": "ENSP00000216378.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 276,
"cds_start": 229,
"cds_end": null,
"cds_length": 831,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216378.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "n.2041C>G",
"hgvs_p": null,
"transcript": "ENST00000356146.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000356146.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001423761.1",
"protein_id": "NP_001410690.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423761.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001423762.1",
"protein_id": "NP_001410691.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423762.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001423763.1",
"protein_id": "NP_001410692.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423763.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000906201.1",
"protein_id": "ENSP00000576260.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906201.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000906202.1",
"protein_id": "ENSP00000576261.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906202.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000941216.1",
"protein_id": "ENSP00000611275.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941216.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000941217.1",
"protein_id": "ENSP00000611276.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941217.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000941218.1",
"protein_id": "ENSP00000611277.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 357,
"cds_start": 226,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941218.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001423764.1",
"protein_id": "NP_001410693.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 338,
"cds_start": 226,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423764.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Leu27Val",
"transcript": "NM_001423765.1",
"protein_id": "NP_001410694.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 308,
"cds_start": 79,
"cds_end": null,
"cds_length": 927,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423765.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Leu27Val",
"transcript": "NM_001423766.1",
"protein_id": "NP_001410695.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 308,
"cds_start": 79,
"cds_end": null,
"cds_length": 927,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423766.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001367064.3",
"protein_id": "NP_001353993.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 300,
"cds_start": 226,
"cds_end": null,
"cds_length": 903,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367064.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001367065.3",
"protein_id": "NP_001353994.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 300,
"cds_start": 226,
"cds_end": null,
"cds_length": 903,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 5312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367065.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001423767.1",
"protein_id": "NP_001410696.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 300,
"cds_start": 226,
"cds_end": null,
"cds_length": 903,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423767.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "NM_001282236.3",
"protein_id": "NP_001269165.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 275,
"cds_start": 226,
"cds_end": null,
"cds_length": 828,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282236.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Leu27Val",
"transcript": "NM_001423768.1",
"protein_id": "NP_001410697.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 251,
"cds_start": 79,
"cds_end": null,
"cds_length": 756,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423768.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Leu27Val",
"transcript": "NM_001423769.1",
"protein_id": "NP_001410698.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 251,
"cds_start": 79,
"cds_end": null,
"cds_length": 756,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423769.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Leu77Val",
"transcript": "XM_047431841.1",
"protein_id": "XP_047287797.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 301,
"cds_start": 229,
"cds_end": null,
"cds_length": 906,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431841.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Leu77Val",
"transcript": "XM_017021732.2",
"protein_id": "XP_016877221.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 279,
"cds_start": 229,
"cds_end": null,
"cds_length": 840,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 7530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "n.284C>G",
"hgvs_p": null,
"transcript": "ENST00000528197.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000528197.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"hgvs_c": "n.434C>G",
"hgvs_p": null,
"transcript": "ENST00000531052.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531052.1"
}
],
"gene_symbol": "CDKL1",
"gene_hgnc_id": 1781,
"dbsnp": "rs368793081",
"frequency_reference_population": 0.000005579852,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000273822,
"gnomad_genomes_af": 0.000032864,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3507736325263977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3137,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.58,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004196.7",
"gene_symbol": "CDKL1",
"hgnc_id": 1781,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}