← 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: 12-31495892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31495892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 31495892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000389082.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "NM_144973.4",
"protein_id": "NP_659410.3",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1274,
"cds_start": 155,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9506,
"mane_select": "ENST00000389082.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "ENST00000389082.10",
"protein_id": "ENSP00000373734.5",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 1274,
"cds_start": 155,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9506,
"mane_select": "NM_144973.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "ENST00000354285.8",
"protein_id": "ENSP00000346238.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 738,
"cds_start": 221,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Lys",
"transcript": "ENST00000546299.1",
"protein_id": "ENSP00000442938.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 537,
"cds_start": 11,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 11,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "NM_001308339.2",
"protein_id": "NP_001295268.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1309,
"cds_start": 260,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 9458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "ENST00000536562.5",
"protein_id": "ENSP00000444889.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 1309,
"cds_start": 260,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "NM_001366890.1",
"protein_id": "NP_001353819.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 738,
"cds_start": 221,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "NM_001366893.1",
"protein_id": "NP_001353822.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 607,
"cds_start": 221,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "NM_001366892.1",
"protein_id": "NP_001353821.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 585,
"cds_start": 155,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "NM_001366891.1",
"protein_id": "NP_001353820.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 408,
"cds_start": 155,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428415.1",
"protein_id": "XP_047284371.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1346,
"cds_start": 260,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 9512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "XM_005253326.3",
"protein_id": "XP_005253383.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1333,
"cds_start": 221,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 9683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "XM_005253327.4",
"protein_id": "XP_005253384.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1311,
"cds_start": 155,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "XM_006719040.4",
"protein_id": "XP_006719103.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1296,
"cds_start": 221,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 9572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428416.1",
"protein_id": "XP_047284372.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1276,
"cds_start": 260,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 9302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428418.1",
"protein_id": "XP_047284374.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1239,
"cds_start": 260,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 9191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "XM_047428421.1",
"protein_id": "XP_047284377.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1204,
"cds_start": 155,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428422.1",
"protein_id": "XP_047284378.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1169,
"cds_start": 260,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428423.1",
"protein_id": "XP_047284379.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1167,
"cds_start": 260,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "XM_005253330.4",
"protein_id": "XP_005253387.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1156,
"cds_start": 221,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 9152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "XM_047428424.1",
"protein_id": "XP_047284380.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1134,
"cds_start": 155,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_017018899.2",
"protein_id": "XP_016874388.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1132,
"cds_start": 260,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Lys",
"transcript": "XM_047428425.1",
"protein_id": "XP_047284381.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1130,
"cds_start": 260,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "XM_047428427.1",
"protein_id": "XP_047284383.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1119,
"cds_start": 221,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 9041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74Lys",
"transcript": "XM_047428428.1",
"protein_id": "XP_047284384.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1117,
"cds_start": 221,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "XM_047428429.1",
"protein_id": "XP_047284385.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1097,
"cds_start": 155,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 8975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys",
"transcript": "XM_047428430.1",
"protein_id": "XP_047284386.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1095,
"cds_start": 155,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 8969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "n.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000544698.1",
"protein_id": "ENSP00000445113.1",
"transcript_support_level": 3,
"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": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "n.341G>A",
"hgvs_p": null,
"transcript": "ENST00000545147.5",
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.-80G>A",
"hgvs_p": null,
"transcript": "XM_047428419.1",
"protein_id": "XP_047284375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "c.-80G>A",
"hgvs_p": null,
"transcript": "XM_047428420.1",
"protein_id": "XP_047284376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"hgvs_c": "n.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000544698.1",
"protein_id": "ENSP00000445113.1",
"transcript_support_level": 3,
"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": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DENND5B",
"gene_hgnc_id": 28338,
"dbsnp": "rs4930979",
"frequency_reference_population": 0.40203285,
"hom_count_reference_population": 136593,
"allele_count_reference_population": 646542,
"gnomad_exomes_af": 0.407944,
"gnomad_genomes_af": 0.345424,
"gnomad_exomes_ac": 594021,
"gnomad_genomes_ac": 52521,
"gnomad_exomes_homalt": 125807,
"gnomad_genomes_homalt": 10786,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00008665831410326064,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.744,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000389082.10",
"gene_symbol": "DENND5B",
"hgnc_id": 28338,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}