← 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: 2-24820010-CAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24820010&ref=CAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24820010,
"ref": "CAAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001377128.1",
"consequences": [
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3354_3356delCTT",
"hgvs_p": "p.Phe1118del",
"transcript": "NM_004036.5",
"protein_id": "NP_004027.2",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": "ENST00000679454.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004036.5"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3354_3356delCTT",
"hgvs_p": "p.Phe1118del",
"transcript": "ENST00000679454.1",
"protein_id": "ENSP00000505261.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": "NM_004036.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679454.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3357_3359delCTT",
"hgvs_p": "p.Phe1119del",
"transcript": "ENST00000405392.6",
"protein_id": "ENSP00000384484.2",
"transcript_support_level": 1,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405392.6"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3354_3356delCTT",
"hgvs_p": "p.Phe1118del",
"transcript": "ENST00000260600.9",
"protein_id": "ENSP00000260600.5",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260600.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "NM_001322101.2",
"protein_id": "NP_001309030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "ENST00000380834.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322101.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "ENST00000380834.7",
"protein_id": "ENSP00000370214.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "NM_001322101.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380834.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "ENST00000260662.2",
"protein_id": "ENSP00000260662.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260662.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3435_3437delCTT",
"hgvs_p": "p.Phe1145del",
"transcript": "ENST00000912214.1",
"protein_id": "ENSP00000582273.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912214.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3420_3422delCTT",
"hgvs_p": "p.Phe1140del",
"transcript": "NM_001377128.1",
"protein_id": "NP_001364057.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 4174,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377128.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3420_3422delCTT",
"hgvs_p": "p.Phe1140del",
"transcript": "ENST00000867857.1",
"protein_id": "ENSP00000537916.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 4158,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867857.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3414_3416delCTT",
"hgvs_p": "p.Phe1138del",
"transcript": "ENST00000948883.1",
"protein_id": "ENSP00000618942.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948883.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3411_3413delCTT",
"hgvs_p": "p.Phe1137del",
"transcript": "ENST00000912212.1",
"protein_id": "ENSP00000582271.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912212.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3372_3374delCTT",
"hgvs_p": "p.Phe1124del",
"transcript": "ENST00000948874.1",
"protein_id": "ENSP00000618933.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3372,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948874.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3369_3371delCTT",
"hgvs_p": "p.Phe1123del",
"transcript": "ENST00000948876.1",
"protein_id": "ENSP00000618935.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948876.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3357_3359delCTT",
"hgvs_p": "p.Phe1119del",
"transcript": "NM_001320613.2",
"protein_id": "NP_001307542.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 4111,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320613.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3354_3356delCTT",
"hgvs_p": "p.Phe1118del",
"transcript": "NM_001377132.1",
"protein_id": "NP_001364061.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377132.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3354_3356delCTT",
"hgvs_p": "p.Phe1118del",
"transcript": "ENST00000948882.1",
"protein_id": "ENSP00000618941.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4066,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948882.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3351_3353delCTT",
"hgvs_p": "p.Phe1117del",
"transcript": "ENST00000912211.1",
"protein_id": "ENSP00000582270.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912211.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3351_3353delCTT",
"hgvs_p": "p.Phe1117del",
"transcript": "ENST00000948879.1",
"protein_id": "ENSP00000618938.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 4088,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948879.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3303_3305delCTT",
"hgvs_p": "p.Phe1101del",
"transcript": "ENST00000948878.1",
"protein_id": "ENSP00000618937.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3303,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 4065,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948878.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3291_3293delCTT",
"hgvs_p": "p.Phe1097del",
"transcript": "ENST00000912215.1",
"protein_id": "ENSP00000582274.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3436,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912215.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3273_3275delCTT",
"hgvs_p": "p.Phe1091del",
"transcript": "ENST00000867860.1",
"protein_id": "ENSP00000537919.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867860.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3231_3233delCTT",
"hgvs_p": "p.Phe1077del",
"transcript": "ENST00000948884.1",
"protein_id": "ENSP00000618943.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948884.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3219_3221delCTT",
"hgvs_p": "p.Phe1073del",
"transcript": "ENST00000948875.1",
"protein_id": "ENSP00000618934.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948875.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3219_3221delCTT",
"hgvs_p": "p.Phe1073del",
"transcript": "ENST00000948886.1",
"protein_id": "ENSP00000618945.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948886.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3216_3218delCTT",
"hgvs_p": "p.Phe1072del",
"transcript": "NM_001377129.1",
"protein_id": "NP_001364058.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377129.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3216_3218delCTT",
"hgvs_p": "p.Phe1072del",
"transcript": "ENST00000867858.1",
"protein_id": "ENSP00000537917.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867858.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3216_3218delCTT",
"hgvs_p": "p.Phe1072del",
"transcript": "ENST00000867859.1",
"protein_id": "ENSP00000537918.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867859.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3213_3215delCTT",
"hgvs_p": "p.Phe1071del",
"transcript": "ENST00000912210.1",
"protein_id": "ENSP00000582269.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3213,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3974,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912210.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3198_3200delCTT",
"hgvs_p": "p.Phe1066del",
"transcript": "ENST00000948881.1",
"protein_id": "ENSP00000618940.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3198,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948881.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3165_3167delCTT",
"hgvs_p": "p.Phe1055del",
"transcript": "ENST00000912213.1",
"protein_id": "ENSP00000582272.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1081,
"cds_start": 3165,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912213.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2949_2951delCTT",
"hgvs_p": "p.Phe983del",
"transcript": "ENST00000948877.1",
"protein_id": "ENSP00000618936.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2949,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 3712,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948877.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2790_2792delCTT",
"hgvs_p": "p.Phe930del",
"transcript": "ENST00000948885.1",
"protein_id": "ENSP00000618944.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 956,
"cds_start": 2790,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948885.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2718_2720delCTT",
"hgvs_p": "p.Phe906del",
"transcript": "ENST00000948880.1",
"protein_id": "ENSP00000618939.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 932,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948880.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2631_2633delCTT",
"hgvs_p": "p.Phe877del",
"transcript": "NM_001377131.1",
"protein_id": "NP_001364060.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 903,
"cds_start": 2631,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377131.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2295_2297delCTT",
"hgvs_p": "p.Phe765del",
"transcript": "ENST00000606682.5",
"protein_id": "ENSP00000475652.1",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 791,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606682.5"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3480_3482delCTT",
"hgvs_p": "p.Phe1160del",
"transcript": "XM_011532489.2",
"protein_id": "XP_011530791.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3480,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 5076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532489.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3477_3479delCTT",
"hgvs_p": "p.Phe1159del",
"transcript": "XM_011532490.2",
"protein_id": "XP_011530792.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532490.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3423_3425delCTT",
"hgvs_p": "p.Phe1141del",
"transcript": "XM_006711925.2",
"protein_id": "XP_006711988.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 4177,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711925.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3414_3416delCTT",
"hgvs_p": "p.Phe1138del",
"transcript": "XM_011532491.2",
"protein_id": "XP_011530793.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 4168,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532491.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3411_3413delCTT",
"hgvs_p": "p.Phe1137del",
"transcript": "XM_017003187.2",
"protein_id": "XP_016858676.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 4165,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003187.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3342_3344delCTT",
"hgvs_p": "p.Phe1114del",
"transcript": "XM_011532493.2",
"protein_id": "XP_011530795.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532493.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3339_3341delCTT",
"hgvs_p": "p.Phe1113del",
"transcript": "XM_017003189.2",
"protein_id": "XP_016858678.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3339,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003189.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3282_3284delCTT",
"hgvs_p": "p.Phe1094del",
"transcript": "XM_011532494.2",
"protein_id": "XP_011530796.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3282,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 4036,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532494.2"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3273_3275delCTT",
"hgvs_p": "p.Phe1091del",
"transcript": "XM_047443008.1",
"protein_id": "XP_047298964.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4027,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443008.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2844_2846delCTT",
"hgvs_p": "p.Phe948del",
"transcript": "XM_017003191.1",
"protein_id": "XP_016858680.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 974,
"cds_start": 2844,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003191.1"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2814_2816delCTT",
"hgvs_p": "p.Phe938del",
"transcript": "XM_047443015.1",
"protein_id": "XP_047298971.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 964,
"cds_start": 2814,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "NM_001377130.1",
"protein_id": "NP_001364059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "NM_024322.4",
"protein_id": "NP_077298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024322.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*674_*676delAAG",
"hgvs_p": null,
"transcript": "ENST00000868050.1",
"protein_id": "ENSP00000538109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*674_*676delAAG",
"hgvs_p": null,
"transcript": "ENST00000912477.1",
"protein_id": "ENSP00000582536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*2211_*2213delAAG",
"hgvs_p": null,
"transcript": "ENST00000912478.1",
"protein_id": "ENSP00000582537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "NM_001199803.3",
"protein_id": "NP_001186732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199803.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null,
"transcript": "ENST00000473706.5",
"protein_id": "ENSP00000417787.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473706.5"
},
{
"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": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "ENST00000498288.1",
"protein_id": "ENSP00000476143.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": null,
"cds_end": null,
"cds_length": 147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_011532492.3",
"protein_id": "XP_011530794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": null,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532492.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_017003188.2",
"protein_id": "XP_016858677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003188.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*367_*369delCTT",
"hgvs_p": null,
"transcript": "XM_047443005.1",
"protein_id": "XP_047298961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443005.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443006.1",
"protein_id": "XP_047298962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": null,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443007.1",
"protein_id": "XP_047298963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443009.1",
"protein_id": "XP_047298965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1108,
"cds_start": null,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*367_*369delCTT",
"hgvs_p": null,
"transcript": "XM_047443010.1",
"protein_id": "XP_047298966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443011.1",
"protein_id": "XP_047298967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": null,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*552_*554delCTT",
"hgvs_p": null,
"transcript": "XM_047443012.1",
"protein_id": "XP_047298968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443013.1",
"protein_id": "XP_047298969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": null,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*95_*97delCTT",
"hgvs_p": null,
"transcript": "XM_047443014.1",
"protein_id": "XP_047298970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": null,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443014.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.*552_*554delCTT",
"hgvs_p": null,
"transcript": "XM_047443016.1",
"protein_id": "XP_047298972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "n.1551_1553delAAG",
"hgvs_p": null,
"transcript": "NR_136182.2",
"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": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136182.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "n.1652_1654delAAG",
"hgvs_p": null,
"transcript": "NR_136183.2",
"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": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136183.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "n.1532_1534delAAG",
"hgvs_p": null,
"transcript": "NR_136184.2",
"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": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136184.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "n.4572_4574delCTT",
"hgvs_p": null,
"transcript": "XR_007068865.1",
"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": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*693_*695delAAG",
"hgvs_p": null,
"transcript": "ENST00000868051.1",
"protein_id": "ENSP00000538110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "n.*120_*122delAAG",
"hgvs_p": null,
"transcript": "ENST00000395845.2",
"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": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000395845.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "n.*233_*235delCTT",
"hgvs_p": null,
"transcript": "ENST00000485887.1",
"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": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485887.1"
}
],
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"dbsnp": "rs750852737",
"frequency_reference_population": 0.000013643055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000136947,
"gnomad_genomes_af": 0.0000131477,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.246,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001377128.1",
"gene_symbol": "ADCY3",
"hgnc_id": 234,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3420_3422delCTT",
"hgvs_p": "p.Phe1140del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024322.4",
"gene_symbol": "CENPO",
"hgnc_id": 28152,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*699_*701delAAG",
"hgvs_p": null
}
],
"clinvar_disease": "ADCY3-related disorder,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19",
"clinvar_classification": " risk factor,Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19|ADCY3-related disorder",
"pathogenicity_classification_combined": "Uncertain significance; risk factor",
"custom_annotations": null
}
],
"message": null
}