← 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: 9-123381911-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123381911&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 123381911,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001352964.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2734C>G",
"hgvs_p": "p.Pro912Ala",
"transcript": "NM_001352964.2",
"protein_id": "NP_001339893.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394215.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352964.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2734C>G",
"hgvs_p": "p.Pro912Ala",
"transcript": "ENST00000394215.7",
"protein_id": "ENSP00000377763.4",
"transcript_support_level": 5,
"aa_start": 912,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352964.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394215.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "n.2543C>G",
"hgvs_p": null,
"transcript": "ENST00000473039.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473039.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2680C>G",
"hgvs_p": "p.Pro894Ala",
"transcript": "NM_001393654.1",
"protein_id": "NP_001380583.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393654.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2680C>G",
"hgvs_p": "p.Pro894Ala",
"transcript": "ENST00000866226.1",
"protein_id": "ENSP00000536285.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866226.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2599C>G",
"hgvs_p": "p.Pro867Ala",
"transcript": "ENST00000866228.1",
"protein_id": "ENSP00000536287.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866228.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2599C>G",
"hgvs_p": "p.Pro867Ala",
"transcript": "ENST00000937726.1",
"protein_id": "ENSP00000607785.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937726.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2584C>G",
"hgvs_p": "p.Pro862Ala",
"transcript": "NM_001352965.2",
"protein_id": "NP_001339894.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352965.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2584C>G",
"hgvs_p": "p.Pro862Ala",
"transcript": "NM_001400449.1",
"protein_id": "NP_001387378.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400449.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2551C>G",
"hgvs_p": "p.Pro851Ala",
"transcript": "NM_020946.2",
"protein_id": "NP_065997.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2551,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020946.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2551C>G",
"hgvs_p": "p.Pro851Ala",
"transcript": "ENST00000373624.6",
"protein_id": "ENSP00000362727.2",
"transcript_support_level": 5,
"aa_start": 851,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2551,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373624.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2494C>G",
"hgvs_p": "p.Pro832Ala",
"transcript": "ENST00000866225.1",
"protein_id": "ENSP00000536284.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 990,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866225.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2446C>G",
"hgvs_p": "p.Pro816Ala",
"transcript": "ENST00000937728.1",
"protein_id": "ENSP00000607787.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 974,
"cds_start": 2446,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937728.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Pro814Ala",
"transcript": "ENST00000866227.1",
"protein_id": "ENSP00000536286.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 972,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866227.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2431C>G",
"hgvs_p": "p.Pro811Ala",
"transcript": "ENST00000937724.1",
"protein_id": "ENSP00000607783.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 969,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937724.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2425C>G",
"hgvs_p": "p.Pro809Ala",
"transcript": "ENST00000937722.1",
"protein_id": "ENSP00000607781.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 967,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937722.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Pro787Ala",
"transcript": "ENST00000937727.1",
"protein_id": "ENSP00000607786.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 945,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937727.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2317C>G",
"hgvs_p": "p.Pro773Ala",
"transcript": "ENST00000937725.1",
"protein_id": "ENSP00000607784.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 931,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937725.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2188C>G",
"hgvs_p": "p.Pro730Ala",
"transcript": "ENST00000937723.1",
"protein_id": "ENSP00000607782.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 888,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937723.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2788C>G",
"hgvs_p": "p.Pro930Ala",
"transcript": "XM_047423613.1",
"protein_id": "XP_047279569.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423613.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2779C>G",
"hgvs_p": "p.Pro927Ala",
"transcript": "XM_011518882.4",
"protein_id": "XP_011517184.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518882.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2734C>G",
"hgvs_p": "p.Pro912Ala",
"transcript": "XM_047423614.1",
"protein_id": "XP_047279570.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423614.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2731C>G",
"hgvs_p": "p.Pro911Ala",
"transcript": "XM_047423615.1",
"protein_id": "XP_047279571.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423615.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2725C>G",
"hgvs_p": "p.Pro909Ala",
"transcript": "XM_006717195.5",
"protein_id": "XP_006717258.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717195.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2671C>G",
"hgvs_p": "p.Pro891Ala",
"transcript": "XM_011518885.4",
"protein_id": "XP_011517187.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2671,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518885.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2659C>G",
"hgvs_p": "p.Pro887Ala",
"transcript": "XM_047423616.1",
"protein_id": "XP_047279572.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423616.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2650C>G",
"hgvs_p": "p.Pro884Ala",
"transcript": "XM_011518886.4",
"protein_id": "XP_011517188.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518886.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2644C>G",
"hgvs_p": "p.Pro882Ala",
"transcript": "XM_024447622.2",
"protein_id": "XP_024303390.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447622.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2638C>G",
"hgvs_p": "p.Pro880Ala",
"transcript": "XM_024447621.2",
"protein_id": "XP_024303389.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447621.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2605C>G",
"hgvs_p": "p.Pro869Ala",
"transcript": "XM_047423618.1",
"protein_id": "XP_047279574.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423618.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2605C>G",
"hgvs_p": "p.Pro869Ala",
"transcript": "XM_047423619.1",
"protein_id": "XP_047279575.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423619.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2596C>G",
"hgvs_p": "p.Pro866Ala",
"transcript": "XM_005252111.5",
"protein_id": "XP_005252168.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252111.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2548C>G",
"hgvs_p": "p.Pro850Ala",
"transcript": "XM_047423620.1",
"protein_id": "XP_047279576.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423620.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2494C>G",
"hgvs_p": "p.Pro832Ala",
"transcript": "XM_047423621.1",
"protein_id": "XP_047279577.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 990,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423621.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2461C>G",
"hgvs_p": "p.Pro821Ala",
"transcript": "XM_047423622.1",
"protein_id": "XP_047279578.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 979,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423622.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2455C>G",
"hgvs_p": "p.Pro819Ala",
"transcript": "XM_047423623.1",
"protein_id": "XP_047279579.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 977,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423623.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Pro802Ala",
"transcript": "XM_047423624.1",
"protein_id": "XP_047279580.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 960,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423624.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Pro800Ala",
"transcript": "XM_047423625.1",
"protein_id": "XP_047279581.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 958,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423625.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2146C>G",
"hgvs_p": "p.Pro716Ala",
"transcript": "XM_024447623.2",
"protein_id": "XP_024303391.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 874,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447623.2"
}
],
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"dbsnp": "rs374521148",
"frequency_reference_population": 0.00000780086,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000780086,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09224763512611389,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0516,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.985,
"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_001352964.2",
"gene_symbol": "DENND1A",
"hgnc_id": 29324,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2734C>G",
"hgvs_p": "p.Pro912Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}