← 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: X-139741027-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=139741027&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 139741027,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173694.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "NM_001353812.2",
"protein_id": "NP_001340741.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682941.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353812.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "ENST00000682941.1",
"protein_id": "ENSP00000507250.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353812.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682941.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Tyr1036Cys",
"transcript": "ENST00000327569.7",
"protein_id": "ENSP00000332756.3",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327569.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Tyr1036Cys",
"transcript": "ENST00000361648.6",
"protein_id": "ENSP00000355165.2",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361648.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Tyr1036Cys",
"transcript": "NM_173694.5",
"protein_id": "NP_775965.3",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173694.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "NM_001353811.2",
"protein_id": "NP_001340740.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353811.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Tyr1036Cys",
"transcript": "NM_001010986.3",
"protein_id": "NP_001010986.2",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010986.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "NM_001353810.2",
"protein_id": "NP_001340739.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353810.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3089A>G",
"hgvs_p": "p.Tyr1030Cys",
"transcript": "ENST00000370557.5",
"protein_id": "ENSP00000359588.1",
"transcript_support_level": 5,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370557.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3026A>G",
"hgvs_p": "p.Tyr1009Cys",
"transcript": "ENST00000422228.2",
"protein_id": "ENSP00000394573.2",
"transcript_support_level": 3,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422228.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Tyr100Cys",
"transcript": "ENST00000450801.1",
"protein_id": "ENSP00000391259.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 172,
"cds_start": 299,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450801.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.203A>G",
"hgvs_p": "p.Tyr68Cys",
"transcript": "ENST00000433868.5",
"protein_id": "ENSP00000397923.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 164,
"cds_start": 203,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433868.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Tyr1057Cys",
"transcript": "XM_047442016.1",
"protein_id": "XP_047297972.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442016.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Tyr1057Cys",
"transcript": "XM_047442017.1",
"protein_id": "XP_047297973.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442017.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Tyr1057Cys",
"transcript": "XM_047442018.1",
"protein_id": "XP_047297974.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442018.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "XM_047442019.1",
"protein_id": "XP_047297975.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442019.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "XM_047442020.1",
"protein_id": "XP_047297976.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442020.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "XM_047442021.1",
"protein_id": "XP_047297977.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442021.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Tyr1057Cys",
"transcript": "XM_047442022.1",
"protein_id": "XP_047297978.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442022.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3080A>G",
"hgvs_p": "p.Tyr1027Cys",
"transcript": "XM_047442023.1",
"protein_id": "XP_047297979.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442023.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3098A>G",
"hgvs_p": "p.Tyr1033Cys",
"transcript": "XM_047442024.1",
"protein_id": "XP_047297980.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442024.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3035A>G",
"hgvs_p": "p.Tyr1012Cys",
"transcript": "XM_047442025.1",
"protein_id": "XP_047297981.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442025.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3026A>G",
"hgvs_p": "p.Tyr1009Cys",
"transcript": "XM_047442026.1",
"protein_id": "XP_047297982.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442026.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3035A>G",
"hgvs_p": "p.Tyr1012Cys",
"transcript": "XM_047442027.1",
"protein_id": "XP_047297983.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442027.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3026A>G",
"hgvs_p": "p.Tyr1009Cys",
"transcript": "XM_047442028.1",
"protein_id": "XP_047297984.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442028.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "XM_017029449.2",
"protein_id": "XP_016884938.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 864,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029449.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "XM_047442029.1",
"protein_id": "XP_047297985.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 864,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "n.2187A>G",
"hgvs_p": null,
"transcript": "ENST00000460773.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000460773.5"
}
],
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"dbsnp": "rs201052330",
"frequency_reference_population": 0.0000024904864,
"hom_count_reference_population": 2,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000182969,
"gnomad_genomes_af": 0.00000896821,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8488616347312927,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7125,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.627,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_173694.5",
"gene_symbol": "ATP11C",
"hgnc_id": 13554,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Tyr1036Cys"
}
],
"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
}