← 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: 2-102176676-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102176676&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102176676,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000410023.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "NM_000877.4",
"protein_id": "NP_000868.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "ENST00000410023.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "ENST00000410023.6",
"protein_id": "ENSP00000386380.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "NM_000877.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Arg512Gly",
"transcript": "ENST00000409929.5",
"protein_id": "ENSP00000386776.1",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 538,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "NM_001320978.2",
"protein_id": "NP_001307907.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "NM_001320980.2",
"protein_id": "NP_001307909.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "NM_001320981.2",
"protein_id": "NP_001307910.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "NM_001320982.2",
"protein_id": "NP_001307911.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Arg512Gly",
"transcript": "NM_001288706.2",
"protein_id": "NP_001275635.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 538,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "NM_001320983.1",
"protein_id": "NP_001307912.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 425,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Arg360Gly",
"transcript": "NM_001320984.1",
"protein_id": "NP_001307913.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 386,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.922C>G",
"hgvs_p": "p.Arg308Gly",
"transcript": "NM_001320985.1",
"protein_id": "NP_001307914.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 334,
"cds_start": 922,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_005263930.4",
"protein_id": "XP_005263987.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_005263934.5",
"protein_id": "XP_005263991.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_011511115.3",
"protein_id": "XP_011509417.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_011511116.2",
"protein_id": "XP_011509418.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_011511118.3",
"protein_id": "XP_011509420.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_047444176.1",
"protein_id": "XP_047300132.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_047444177.1",
"protein_id": "XP_047300133.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_047444178.1",
"protein_id": "XP_047300134.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly",
"transcript": "XM_047444179.1",
"protein_id": "XP_047300135.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "XM_047444180.1",
"protein_id": "XP_047300136.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 425,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "XM_047444181.1",
"protein_id": "XP_047300137.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 425,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "XM_047444182.1",
"protein_id": "XP_047300138.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 425,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "XM_047444183.1",
"protein_id": "XP_047300139.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 425,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "n.*1077C>G",
"hgvs_p": null,
"transcript": "ENST00000413623.5",
"protein_id": "ENSP00000407017.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.830G>C",
"hgvs_p": null,
"transcript": "ENST00000799943.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.700G>C",
"hgvs_p": null,
"transcript": "ENST00000799944.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.760G>C",
"hgvs_p": null,
"transcript": "ENST00000799945.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.*990C>G",
"hgvs_p": null,
"transcript": "ENST00000424272.5",
"protein_id": "ENSP00000415366.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "n.*1077C>G",
"hgvs_p": null,
"transcript": "ENST00000413623.5",
"protein_id": "ENSP00000407017.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.487-526C>G",
"hgvs_p": null,
"transcript": "ENST00000409589.5",
"protein_id": "ENSP00000386555.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.352+3236G>C",
"hgvs_p": null,
"transcript": "ENST00000428188.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.338+3236G>C",
"hgvs_p": null,
"transcript": "ENST00000799942.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1-AS1",
"gene_hgnc_id": 53898,
"hgvs_c": "n.305+3236G>C",
"hgvs_p": null,
"transcript": "NR_174960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"dbsnp": "rs371084247",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"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": 0.07733413577079773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0778,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.584,
"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": "ENST00000410023.6",
"gene_symbol": "IL1R1",
"hgnc_id": 5993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1627C>G",
"hgvs_p": "p.Arg543Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000799943.1",
"gene_symbol": "IL1R1-AS1",
"hgnc_id": 53898,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.830G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}