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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: 5-145817918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=145817918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 145817918,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182960.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_205846.3",
"protein_id": "NP_995318.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683046.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205846.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000683046.1",
"protein_id": "ENSP00000506938.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_205846.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683046.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000394450.6",
"protein_id": "ENSP00000377965.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 148,
"cds_start": 257,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394450.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "NM_182960.4",
"protein_id": "NP_892005.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 380,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182960.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000334744.8",
"protein_id": "ENSP00000335675.4",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 380,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334744.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000505416.5",
"protein_id": "ENSP00000424730.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505416.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000894037.1",
"protein_id": "ENSP00000564096.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894037.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000925513.1",
"protein_id": "ENSP00000595572.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925513.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000925514.1",
"protein_id": "ENSP00000595573.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925514.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000941997.1",
"protein_id": "ENSP00000612056.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941997.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000511435.1",
"protein_id": "ENSP00000422789.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 164,
"cds_start": 344,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511435.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "NM_138492.6",
"protein_id": "NP_612501.3",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 148,
"cds_start": 257,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138492.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009127.2",
"protein_id": "XP_016864616.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 194,
"cds_start": 380,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009127.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009128.2",
"protein_id": "XP_016864617.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 192,
"cds_start": 380,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009128.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009130.2",
"protein_id": "XP_016864619.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 380,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009130.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009131.2",
"protein_id": "XP_016864620.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 380,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009131.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_047416828.1",
"protein_id": "XP_047272784.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 380,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416828.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "XM_047416829.1",
"protein_id": "XP_047272785.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 180,
"cds_start": 344,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416829.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "XM_047416830.1",
"protein_id": "XP_047272786.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416830.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "XM_047416831.1",
"protein_id": "XP_047272787.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 177,
"cds_start": 344,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416831.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009132.2",
"protein_id": "XP_016864621.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 143,
"cds_start": 380,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009132.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_017009133.2",
"protein_id": "XP_016864622.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 143,
"cds_start": 380,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009133.2"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 7,
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"gene_symbol": "PRELID2",
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"transcript": "XM_047416832.1",
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"biotype": "protein_coding",
"feature": "XM_047416832.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "PRELID2",
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"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "XM_017009135.2",
"protein_id": "XP_016864624.1",
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"aa_length": 131,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017009135.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PRELID2",
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"hgvs_c": "c.75+17259G>A",
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"transcript": "ENST00000894033.1",
"protein_id": "ENSP00000564092.1",
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"aa_length": 44,
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"cds_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000894033.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PRELID2",
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"hgvs_c": "c.75+17259G>A",
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"transcript": "ENST00000894035.1",
"protein_id": "ENSP00000564094.1",
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"biotype": "protein_coding",
"feature": "ENST00000894035.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 10,
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"gene_symbol": "PRELID2",
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"hgvs_c": "n.435G>A",
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"transcript": "XR_007058586.1",
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"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": "XR_007058586.1"
}
],
"gene_symbol": "PRELID2",
"gene_hgnc_id": 28306,
"dbsnp": "rs368066613",
"frequency_reference_population": 0.000023116932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000220611,
"gnomad_genomes_af": 0.0000328701,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.094431072473526,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.498,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_182960.4",
"gene_symbol": "PRELID2",
"hgnc_id": 28306,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln"
}
],
"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
}