← 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: 7-92079129-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92079129&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92079129,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_005751.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6996A>G",
"hgvs_p": "p.Glu2332Glu",
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": 2332,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6996,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 7234,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "ENST00000356239.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005751.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6996A>G",
"hgvs_p": "p.Glu2332Glu",
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": 2332,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6996,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 7234,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "NM_005751.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356239.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Glu547Glu",
"transcript": "ENST00000491695.2",
"protein_id": "ENSP00000494626.2",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1641,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491695.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.489A>G",
"hgvs_p": "p.Glu163Glu",
"transcript": "ENST00000394534.7",
"protein_id": "ENSP00000378042.3",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 1571,
"cds_start": 489,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 5149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394534.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.7068A>G",
"hgvs_p": "p.Glu2356Glu",
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": 2356,
"aa_end": null,
"aa_length": 3931,
"cds_start": 7068,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 7068,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359028.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6996A>G",
"hgvs_p": "p.Glu2332Glu",
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": 2332,
"aa_end": null,
"aa_length": 3923,
"cds_start": 6996,
"cds_end": null,
"cds_length": 11772,
"cdna_start": 7218,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681412.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.7035A>G",
"hgvs_p": "p.Glu2345Glu",
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": 2345,
"aa_end": null,
"aa_length": 3920,
"cds_start": 7035,
"cds_end": null,
"cds_length": 11763,
"cdna_start": 7295,
"cdna_end": null,
"cdna_length": 12537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680534.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6972A>G",
"hgvs_p": "p.Glu2324Glu",
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": 2324,
"aa_end": null,
"aa_length": 3915,
"cds_start": 6972,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 7210,
"cdna_end": null,
"cdna_length": 12328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681722.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6972A>G",
"hgvs_p": "p.Glu2324Glu",
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": 2324,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6972,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 7210,
"cdna_end": null,
"cdna_length": 12452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147185.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6972A>G",
"hgvs_p": "p.Glu2324Glu",
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": 2324,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6972,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 7194,
"cdna_end": null,
"cdna_length": 12423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680766.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6942A>G",
"hgvs_p": "p.Glu2314Glu",
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": 2314,
"aa_end": null,
"aa_length": 3889,
"cds_start": 6942,
"cds_end": null,
"cds_length": 11670,
"cdna_start": 7180,
"cdna_end": null,
"cdna_length": 12422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679521.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6903A>G",
"hgvs_p": "p.Glu2301Glu",
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": 2301,
"aa_end": null,
"aa_length": 3876,
"cds_start": 6903,
"cds_end": null,
"cds_length": 11631,
"cdna_start": 7141,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680181.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6891A>G",
"hgvs_p": "p.Glu2297Glu",
"transcript": "ENST00000925975.1",
"protein_id": "ENSP00000596034.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 3872,
"cds_start": 6891,
"cds_end": null,
"cds_length": 11619,
"cdna_start": 7129,
"cdna_end": null,
"cdna_length": 12369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925975.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6855A>G",
"hgvs_p": "p.Glu2285Glu",
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
"transcript_support_level": null,
"aa_start": 2285,
"aa_end": null,
"aa_length": 3860,
"cds_start": 6855,
"cds_end": null,
"cds_length": 11583,
"cdna_start": 7115,
"cdna_end": null,
"cdna_length": 12357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680513.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6831A>G",
"hgvs_p": "p.Glu2277Glu",
"transcript": "ENST00000925977.1",
"protein_id": "ENSP00000596036.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 3852,
"cds_start": 6831,
"cds_end": null,
"cds_length": 11559,
"cdna_start": 7052,
"cdna_end": null,
"cdna_length": 12052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925977.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6819A>G",
"hgvs_p": "p.Glu2273Glu",
"transcript": "ENST00000680072.1",
"protein_id": "ENSP00000506581.1",
"transcript_support_level": null,
"aa_start": 2273,
"aa_end": null,
"aa_length": 3848,
"cds_start": 6819,
"cds_end": null,
"cds_length": 11547,
"cdna_start": 7079,
"cdna_end": null,
"cdna_length": 12321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680072.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6783A>G",
"hgvs_p": "p.Glu2261Glu",
"transcript": "ENST00000925976.1",
"protein_id": "ENSP00000596035.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 3836,
"cds_start": 6783,
"cds_end": null,
"cds_length": 11511,
"cdna_start": 7010,
"cdna_end": null,
"cdna_length": 12249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925976.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6972A>G",
"hgvs_p": "p.Glu2324Glu",
"transcript": "ENST00000680952.1",
"protein_id": "ENSP00000506407.1",
"transcript_support_level": null,
"aa_start": 2324,
"aa_end": null,
"aa_length": 3827,
"cds_start": 6972,
"cds_end": null,
"cds_length": 11484,
"cdna_start": 7194,
"cdna_end": null,
"cdna_length": 12118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680952.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6738A>G",
"hgvs_p": "p.Glu2246Glu",
"transcript": "ENST00000679821.1",
"protein_id": "ENSP00000506040.1",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 3821,
"cds_start": 6738,
"cds_end": null,
"cds_length": 11466,
"cdna_start": 6978,
"cdna_end": null,
"cdna_length": 12207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679821.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Glu547Glu",
"transcript": "NM_001379277.1",
"protein_id": "NP_001366206.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1641,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 7474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6725A>G",
"hgvs_p": null,
"transcript": "ENST00000674381.2",
"protein_id": "ENSP00000501536.2",
"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": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674381.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6972A>G",
"hgvs_p": null,
"transcript": "ENST00000679448.1",
"protein_id": "ENSP00000505889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12677,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6972A>G",
"hgvs_p": null,
"transcript": "ENST00000679457.1",
"protein_id": "ENSP00000505450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13676,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.7194A>G",
"hgvs_p": null,
"transcript": "ENST00000679474.1",
"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": 13320,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6781A>G",
"hgvs_p": null,
"transcript": "ENST00000679554.1",
"protein_id": "ENSP00000506415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8638,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.7218A>G",
"hgvs_p": null,
"transcript": "ENST00000679722.1",
"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": 9295,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000679722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.7194A>G",
"hgvs_p": null,
"transcript": "ENST00000680047.1",
"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": 13866,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.489A>G",
"hgvs_p": null,
"transcript": "ENST00000680365.1",
"protein_id": "ENSP00000506019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.489A>G",
"hgvs_p": null,
"transcript": "ENST00000681216.1",
"protein_id": "ENSP00000505551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6725A>G",
"hgvs_p": null,
"transcript": "ENST00000674381.2",
"protein_id": "ENSP00000501536.2",
"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": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674381.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6781A>G",
"hgvs_p": null,
"transcript": "ENST00000679554.1",
"protein_id": "ENSP00000506415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8638,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679554.1"
}
],
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"dbsnp": "rs1315064294",
"frequency_reference_population": 0.000003099349,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205338,
"gnomad_genomes_af": 0.0000131373,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.66,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_005751.5",
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6996A>G",
"hgvs_p": "p.Glu2332Glu"
}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|Long QT syndrome|not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}