← 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: 6-43450646-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43450646&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43450646,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_023932.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1045T>C",
"hgvs_p": "p.Tyr349His",
"transcript": "NM_023932.4",
"protein_id": "NP_076421.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 383,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "ENST00000372488.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1045T>C",
"hgvs_p": "p.Tyr349His",
"transcript": "ENST00000372488.8",
"protein_id": "ENSP00000361566.3",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 383,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "NM_023932.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1045T>C",
"hgvs_p": "p.Tyr349His",
"transcript": "NM_206539.2",
"protein_id": "NP_996262.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 383,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1045T>C",
"hgvs_p": "p.Tyr349His",
"transcript": "ENST00000357338.3",
"protein_id": "ENSP00000349893.3",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 383,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1027T>C",
"hgvs_p": "p.Tyr343His",
"transcript": "NM_001286656.2",
"protein_id": "NP_001273585.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 377,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1027T>C",
"hgvs_p": "p.Tyr343His",
"transcript": "ENST00000372485.5",
"protein_id": "ENSP00000361563.1",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 377,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.934T>C",
"hgvs_p": "p.Tyr312His",
"transcript": "NM_001286655.1",
"protein_id": "NP_001273584.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 346,
"cds_start": 934,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.760T>C",
"hgvs_p": "p.Tyr254His",
"transcript": "ENST00000430324.5",
"protein_id": "ENSP00000399829.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1324T>C",
"hgvs_p": "p.Tyr442His",
"transcript": "XM_005249308.6",
"protein_id": "XP_005249365.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 476,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1231T>C",
"hgvs_p": "p.Tyr411His",
"transcript": "XM_011514823.4",
"protein_id": "XP_011513125.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 445,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Tyr318His",
"transcript": "XM_047419263.1",
"protein_id": "XP_047275219.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 352,
"cds_start": 952,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Tyr318His",
"transcript": "XM_047419264.1",
"protein_id": "XP_047275220.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 352,
"cds_start": 952,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.943T>C",
"hgvs_p": "p.Tyr315His",
"transcript": "XM_047419265.1",
"protein_id": "XP_047275221.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 349,
"cds_start": 943,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*13+1112A>G",
"hgvs_p": null,
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": -4,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*13+1112A>G",
"hgvs_p": null,
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.4828+322A>G",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "NM_001198934.2",
"protein_id": "NP_001185863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "ENST00000372530.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "ENST00000372530.9",
"protein_id": "ENSP00000361608.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "NM_001198934.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "ENST00000244533.7",
"protein_id": "ENSP00000244533.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "NM_033450.3",
"protein_id": "NP_258261.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "NM_001350518.2",
"protein_id": "NP_001337447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*8749A>G",
"hgvs_p": null,
"transcript": "ENST00000372515.9",
"protein_id": "ENSP00000361593.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "ENST00000505344.1",
"protein_id": "ENSP00000422699.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.*220A>G",
"hgvs_p": null,
"transcript": "ENST00000463024.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.*219A>G",
"hgvs_p": null,
"transcript": "NR_146762.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_047419494.1",
"protein_id": "XP_047275450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1523,
"cds_start": -4,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_011514974.4",
"protein_id": "XP_011513276.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_047419495.1",
"protein_id": "XP_047275451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_047419499.1",
"protein_id": "XP_047275455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": -4,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_047419502.1",
"protein_id": "XP_047275458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_011514985.4",
"protein_id": "XP_011513287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*555A>G",
"hgvs_p": null,
"transcript": "XM_011514986.4",
"protein_id": "XP_011513288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"dbsnp": "rs1250499791",
"frequency_reference_population": 0.0000068174604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684286,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18952152132987976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.983,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023932.4",
"gene_symbol": "DLK2",
"hgnc_id": 21113,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1045T>C",
"hgvs_p": "p.Tyr349His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059383.1",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4828+322A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}