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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: 1-243664832-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243664832&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243664832,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005465.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "NM_005465.7",
"protein_id": "NP_005456.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 479,
"cds_start": 224,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673466.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005465.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000673466.1",
"protein_id": "ENSP00000500582.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 479,
"cds_start": 224,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005465.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673466.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000263826.12",
"protein_id": "ENSP00000263826.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 479,
"cds_start": 224,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263826.12"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000336199.9",
"protein_id": "ENSP00000336943.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 224,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336199.9"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000366540.5",
"protein_id": "ENSP00000355498.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 224,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366540.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "NM_001370074.1",
"protein_id": "NP_001357003.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 479,
"cds_start": 224,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370074.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "NM_001206729.2",
"protein_id": "NP_001193658.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 224,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206729.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "NM_181690.2",
"protein_id": "NP_859029.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 224,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181690.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000366539.6",
"protein_id": "ENSP00000355497.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 456,
"cds_start": 224,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366539.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33Lys",
"transcript": "ENST00000680056.1",
"protein_id": "ENSP00000505337.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 437,
"cds_start": 98,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680056.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "ENST00000672578.1",
"protein_id": "ENSP00000500597.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672578.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000492957.2",
"protein_id": "ENSP00000506695.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 247,
"cds_start": 224,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492957.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000672238.1",
"protein_id": "ENSP00000506535.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 100,
"cds_start": 224,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672238.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "XM_047415643.1",
"protein_id": "XP_047271599.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 456,
"cds_start": 224,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415643.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "XM_047417359.1",
"protein_id": "XP_047273315.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417359.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "XM_047419186.1",
"protein_id": "XP_047275142.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419186.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "XM_047420641.1",
"protein_id": "XP_047276597.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420641.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "XM_047422391.1",
"protein_id": "XP_047278347.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422391.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14Lys",
"transcript": "XM_047424332.1",
"protein_id": "XP_047280288.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 41,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424332.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "XM_024446892.2",
"protein_id": "XP_024302660.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 295,
"cds_start": 224,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446892.2"
},
{
"aa_ref": "R",
"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": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "XM_024447938.2",
"protein_id": "XP_024303706.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 247,
"cds_start": 224,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447938.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.362G>A",
"hgvs_p": null,
"transcript": "ENST00000463991.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463991.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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},
{
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},
{
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"canonical": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "AKT3",
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"transcript": "ENST00000672679.1",
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"biotype": "pseudogene",
"feature": "ENST00000672679.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 14,
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"gene_symbol": "AKT3",
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"transcript": "ENST00000680118.1",
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"feature": "ENST00000680118.1"
},
{
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],
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"gene_symbol": "AKT3",
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"transcript": "ENST00000681794.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "AKT3",
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"transcript": "ENST00000672442.1",
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"feature": "ENST00000672442.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.-20G>A",
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"transcript": "ENST00000672460.1",
"protein_id": "ENSP00000499842.1",
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672460.1"
}
],
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"dbsnp": "rs1553428545",
"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": 0.7584388852119446,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.366,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9748,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.876,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005465.7",
"gene_symbol": "AKT3",
"hgnc_id": 393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys"
}
],
"clinvar_disease": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}