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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: 4-141727962-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=141727962&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 141727962,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000585.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "NM_000585.5",
"protein_id": "NP_000576.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": "ENST00000320650.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000585.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000320650.9",
"protein_id": "ENSP00000323505.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": "NM_000585.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320650.9"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000296545.11",
"protein_id": "ENSP00000296545.7",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296545.11"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Ser",
"transcript": "ENST00000394159.2",
"protein_id": "ENSP00000377714.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 137,
"cds_end": null,
"cds_length": 408,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394159.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Ser",
"transcript": "ENST00000477265.5",
"protein_id": "ENSP00000436914.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 137,
"cds_end": null,
"cds_length": 408,
"cdna_start": 5145,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477265.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000529613.5",
"protein_id": "ENSP00000435462.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529613.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887020.1",
"protein_id": "ENSP00000557079.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887020.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887021.1",
"protein_id": "ENSP00000557080.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887021.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887022.1",
"protein_id": "ENSP00000557081.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887022.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887023.1",
"protein_id": "ENSP00000557082.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887023.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887024.1",
"protein_id": "ENSP00000557083.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887024.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887025.1",
"protein_id": "ENSP00000557084.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887025.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887026.1",
"protein_id": "ENSP00000557085.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887026.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887027.1",
"protein_id": "ENSP00000557086.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887027.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887028.1",
"protein_id": "ENSP00000557087.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887028.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887029.1",
"protein_id": "ENSP00000557088.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887029.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887030.1",
"protein_id": "ENSP00000557089.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887030.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887031.1",
"protein_id": "ENSP00000557090.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887031.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887032.1",
"protein_id": "ENSP00000557091.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887032.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887033.1",
"protein_id": "ENSP00000557092.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887033.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887034.1",
"protein_id": "ENSP00000557093.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887034.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000887035.1",
"protein_id": "ENSP00000557094.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 218,
"cds_end": null,
"cds_length": 489,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887035.1"
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"exon_count": 9,
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"biotype": "protein_coding",
"feature": "ENST00000968090.1"
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 8,
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"gene_symbol": "IL15",
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"hgvs_p": "p.Leu73Ser",
"transcript": "ENST00000968091.1",
"protein_id": "ENSP00000638150.1",
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"cdna_start": 966,
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"biotype": "protein_coding",
"feature": "ENST00000968091.1"
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 10,
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"gene_symbol": "IL15",
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"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Ser",
"transcript": "NM_172175.3",
"protein_id": "NP_751915.1",
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"cdna_start": 926,
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"cdna_length": 2336,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172175.3"
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 10,
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"gene_symbol": "IL15",
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"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Ser",
"transcript": "ENST00000514653.5",
"protein_id": "ENSP00000422271.1",
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"biotype": "protein_coding",
"feature": "ENST00000514653.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "IL15",
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"hgvs_c": "n.250T>C",
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"transcript": "ENST00000509249.1",
"protein_id": null,
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"aa_length": null,
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"cds_end": null,
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"cdna_length": 272,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509249.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 8,
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"intron_rank_end": null,
"gene_symbol": "IL15",
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"hgvs_c": "n.1081T>C",
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"transcript": "NR_037840.3",
"protein_id": null,
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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,
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"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037840.3"
}
],
"gene_symbol": "IL15",
"gene_hgnc_id": 5977,
"dbsnp": "rs753746979",
"frequency_reference_population": 0.000035286128,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000339358,
"gnomad_genomes_af": 0.0000460084,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9641292691230774,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.532,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000585.5",
"gene_symbol": "IL15",
"hgnc_id": 5977,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Ser"
}
],
"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
}