← Back to variant description
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: 5-134308191-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134308191&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134308191,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001113575.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "NM_001113575.2",
"protein_id": "NP_001107047.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 592,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000265334.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113575.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "ENST00000265334.9",
"protein_id": "ENSP00000265334.4",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 592,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "NM_001113575.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265334.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "ENST00000523832.1",
"protein_id": "ENSP00000430496.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 455,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*269C>G",
"hgvs_p": null,
"transcript": "ENST00000519312.5",
"protein_id": "ENSP00000427738.1",
"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": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*269C>G",
"hgvs_p": null,
"transcript": "ENST00000519312.5",
"protein_id": "ENSP00000427738.1",
"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": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.86-5504C>G",
"hgvs_p": null,
"transcript": "ENST00000703317.1",
"protein_id": "ENSP00000515260.1",
"transcript_support_level": null,
"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": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703317.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "ENST00000521118.5",
"protein_id": "ENSP00000428689.1",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 590,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521118.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "NM_016508.4",
"protein_id": "NP_057592.2",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 455,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016508.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "NM_001349363.2",
"protein_id": "NP_001336292.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349363.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "NM_001300853.2",
"protein_id": "NP_001287782.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 401,
"cds_start": 744,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300853.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "ENST00000523054.5",
"protein_id": "ENSP00000428500.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 401,
"cds_start": 744,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523054.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.426C>G",
"hgvs_p": "p.Asn142Lys",
"transcript": "NM_001349364.2",
"protein_id": "NP_001336293.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 312,
"cds_start": 426,
"cds_end": null,
"cds_length": 939,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349364.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.426C>G",
"hgvs_p": "p.Asn142Lys",
"transcript": "NM_001349365.2",
"protein_id": "NP_001336294.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 312,
"cds_start": 426,
"cds_end": null,
"cds_length": 939,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349365.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.426C>G",
"hgvs_p": "p.Asn142Lys",
"transcript": "NM_001349366.2",
"protein_id": "NP_001336295.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 312,
"cds_start": 426,
"cds_end": null,
"cds_length": 939,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349366.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_011543429.3",
"protein_id": "XP_011541731.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 619,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543429.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_024446086.2",
"protein_id": "XP_024301854.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 619,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446086.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_024446087.2",
"protein_id": "XP_024301855.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 619,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446087.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_047417267.1",
"protein_id": "XP_047273223.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 619,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417267.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "XM_017009532.2",
"protein_id": "XP_016865021.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 607,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009532.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "XM_024446088.2",
"protein_id": "XP_024301856.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 607,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446088.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"transcript": "XM_024446089.2",
"protein_id": "XP_024301857.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 607,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446089.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_017009533.2",
"protein_id": "XP_016865022.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 604,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009533.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_017009534.2",
"protein_id": "XP_016865023.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 602,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009534.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_024446090.2",
"protein_id": "XP_024301858.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 602,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446090.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_024446091.2",
"protein_id": "XP_024301859.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 598,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446091.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1104C>G",
"hgvs_p": "p.Asn368Lys",
"transcript": "XM_017009536.2",
"protein_id": "XP_016865025.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 538,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009536.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.999C>G",
"hgvs_p": "p.Asn333Lys",
"transcript": "XM_024446093.2",
"protein_id": "XP_024301861.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 999,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446093.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Asn449Lys",
"transcript": "XM_047417268.1",
"protein_id": "XP_047273224.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 492,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417268.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.888C>G",
"hgvs_p": "p.Asn296Lys",
"transcript": "XM_024446094.2",
"protein_id": "XP_024301862.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 466,
"cds_start": 888,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446094.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "XM_024446099.2",
"protein_id": "XP_024301867.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446099.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "XM_024446101.2",
"protein_id": "XP_024301869.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446101.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "XM_024446102.1",
"protein_id": "XP_024301870.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446102.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "XM_024446104.2",
"protein_id": "XP_024301872.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446104.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asn248Lys",
"transcript": "XM_047417269.1",
"protein_id": "XP_047273225.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 418,
"cds_start": 744,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417269.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.426C>G",
"hgvs_p": "p.Asn142Lys",
"transcript": "XM_024446105.1",
"protein_id": "XP_024301873.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 312,
"cds_start": 426,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.*226C>G",
"hgvs_p": null,
"transcript": "ENST00000521755.1",
"protein_id": "ENSP00000427964.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.*269C>G",
"hgvs_p": null,
"transcript": "XM_047417270.1",
"protein_id": "XP_047273226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "c.918-1489C>G",
"hgvs_p": null,
"transcript": "XM_024446095.2",
"protein_id": "XP_024301863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446095.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.590C>G",
"hgvs_p": null,
"transcript": "ENST00000518409.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518409.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.818C>G",
"hgvs_p": null,
"transcript": "ENST00000520515.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000520515.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*406C>G",
"hgvs_p": null,
"transcript": "ENST00000520592.1",
"protein_id": "ENSP00000428498.1",
"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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*406C>G",
"hgvs_p": null,
"transcript": "ENST00000520693.5",
"protein_id": "ENSP00000430777.1",
"transcript_support_level": 2,
"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": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520693.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.*226C>G",
"hgvs_p": null,
"transcript": "ENST00000703313.1",
"protein_id": "ENSP00000515258.1",
"transcript_support_level": null,
"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": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703313.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.481C>G",
"hgvs_p": null,
"transcript": "ENST00000703316.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703316.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.711C>G",
"hgvs_p": null,
"transcript": "ENST00000703355.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*406C>G",
"hgvs_p": null,
"transcript": "ENST00000520592.1",
"protein_id": "ENSP00000428498.1",
"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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"hgvs_c": "n.*406C>G",
"hgvs_p": null,
"transcript": "ENST00000520693.5",
"protein_id": "ENSP00000430777.1",
"transcript_support_level": 2,
"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": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520693.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.*226C>G",
"hgvs_p": null,
"transcript": "ENST00000703313.1",
"protein_id": "ENSP00000515258.1",
"transcript_support_level": null,
"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": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.169-3624C>G",
"hgvs_p": null,
"transcript": "ENST00000703312.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703312.1"
}
],
"gene_symbol": "CDKL3",
"gene_hgnc_id": 15483,
"dbsnp": "rs766434934",
"frequency_reference_population": 0.000006157956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615796,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08922538161277771,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1365,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.844,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001113575.2",
"gene_symbol": "CDKL3",
"hgnc_id": 15483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703317.1",
"gene_symbol": "ENSG00000273345",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.86-5504C>G",
"hgvs_p": null
}
],
"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
}