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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: 11-8696549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=8696549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 8696549,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005418.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "NM_213618.2",
"protein_id": "NP_998783.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313726.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213618.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000313726.11",
"protein_id": "ENSP00000319678.6",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213618.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313726.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000534127.5",
"protein_id": "ENSP00000433528.1",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534127.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.1910G>A",
"hgvs_p": "p.Arg637Gln",
"transcript": "ENST00000526757.5",
"protein_id": "ENSP00000435097.1",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 717,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526757.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.1910G>A",
"hgvs_p": "p.Arg637Gln",
"transcript": "ENST00000530438.5",
"protein_id": "ENSP00000436802.1",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 717,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530438.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "ENST00000534278.5",
"protein_id": "ENSP00000433349.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 328,
"cds_start": 743,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534278.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3230G>A",
"hgvs_p": "p.Arg1077Gln",
"transcript": "ENST00000857974.1",
"protein_id": "ENSP00000528033.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3230,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857974.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3206G>A",
"hgvs_p": "p.Arg1069Gln",
"transcript": "ENST00000857975.1",
"protein_id": "ENSP00000528034.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857975.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "NM_001376495.1",
"protein_id": "NP_001363424.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376495.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "NM_001376496.1",
"protein_id": "NP_001363425.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376496.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "NM_001376497.1",
"protein_id": "NP_001363426.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376497.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "NM_005418.4",
"protein_id": "NP_005409.3",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005418.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857949.1",
"protein_id": "ENSP00000528008.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857949.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857950.1",
"protein_id": "ENSP00000528009.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857950.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857952.1",
"protein_id": "ENSP00000528011.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857952.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857956.1",
"protein_id": "ENSP00000528015.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857956.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857958.1",
"protein_id": "ENSP00000528017.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857958.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857959.1",
"protein_id": "ENSP00000528018.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857959.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857960.1",
"protein_id": "ENSP00000528019.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857960.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857961.1",
"protein_id": "ENSP00000528020.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857961.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857963.1",
"protein_id": "ENSP00000528022.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857963.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln",
"transcript": "ENST00000857965.1",
"protein_id": "ENSP00000528024.1",
"transcript_support_level": null,
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],
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "DENND2B",
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"transcript": "NR_164819.1",
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"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164819.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
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"hgvs_c": "n.3501G>A",
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"transcript": "NR_164820.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164820.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
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"hgvs_c": "n.3396G>A",
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"transcript": "NR_164821.1",
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"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": "NR_164821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "n.3560G>A",
"hgvs_p": null,
"transcript": "NR_164822.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"hgvs_c": "n.*358G>A",
"hgvs_p": null,
"transcript": "ENST00000526062.5",
"protein_id": "ENSP00000433043.1",
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"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": "nonsense_mediated_decay",
"feature": "ENST00000526062.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL27A",
"gene_hgnc_id": 10329,
"hgvs_c": "n.174+7246C>T",
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"transcript": "ENST00000531102.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531102.1"
}
],
"gene_symbol": "DENND2B",
"gene_hgnc_id": 11350,
"dbsnp": "rs1415349073",
"frequency_reference_population": 0.0000013680882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7401207089424133,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.15,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.808,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005418.4",
"gene_symbol": "DENND2B",
"hgnc_id": 11350,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3170G>A",
"hgvs_p": "p.Arg1057Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000529883.1",
"gene_symbol": "ENSG00000254665",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.686C>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531102.1",
"gene_symbol": "RPL27A",
"hgnc_id": 10329,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.174+7246C>T",
"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
}