← 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: 11-71999989-CCAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71999989&ref=CCAT&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71999989,
"ref": "CCAT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001039660.2",
"consequences": [
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_001039660.2",
"protein_id": "NP_001034749.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": "ENST00000393703.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000393703.9",
"protein_id": "ENSP00000377306.4",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": "NM_001039660.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000497194.6",
"protein_id": "ENSP00000434717.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 199,
"cds_start": 6,
"cds_end": null,
"cds_length": 600,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000393705.8",
"protein_id": "ENSP00000377308.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000404792.5",
"protein_id": "ENSP00000384212.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000393707.4",
"protein_id": "ENSP00000377310.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 115,
"cds_start": 6,
"cds_end": null,
"cds_length": 348,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 1037,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000343898.9",
"protein_id": "ENSP00000343309.5",
"transcript_support_level": 1,
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_005699.3",
"protein_id": "NP_005690.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 199,
"cds_start": 6,
"cds_end": null,
"cds_length": 600,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000531053.5",
"protein_id": "ENSP00000434835.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 199,
"cds_start": 6,
"cds_end": null,
"cds_length": 600,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_001039659.2",
"protein_id": "NP_001034748.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_001145057.1",
"protein_id": "NP_001138529.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_173042.2",
"protein_id": "NP_766630.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000337131.9",
"protein_id": "ENSP00000338723.5",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_173044.3",
"protein_id": "NP_766632.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 163,
"cds_start": 6,
"cds_end": null,
"cds_length": 492,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000620017.4",
"protein_id": "ENSP00000480621.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 163,
"cds_start": 6,
"cds_end": null,
"cds_length": 492,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "NM_001145055.1",
"protein_id": "NP_001138527.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 115,
"cds_start": 6,
"cds_end": null,
"cds_length": 348,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "ENST00000698841.1",
"protein_id": "ENSP00000513977.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 33,
"cds_start": 6,
"cds_end": null,
"cds_length": 102,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_017017059.2",
"protein_id": "XP_016872548.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_017017061.3",
"protein_id": "XP_016872550.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_017017063.2",
"protein_id": "XP_016872552.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_024448303.2",
"protein_id": "XP_024304071.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_024448304.2",
"protein_id": "XP_024304072.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426203.1",
"protein_id": "XP_047282159.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426204.1",
"protein_id": "XP_047282160.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426205.1",
"protein_id": "XP_047282161.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426206.1",
"protein_id": "XP_047282162.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426207.1",
"protein_id": "XP_047282163.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TM",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del",
"transcript": "XM_047426208.1",
"protein_id": "XP_047282164.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 194,
"cds_start": 6,
"cds_end": null,
"cds_length": 585,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1936,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000534583.5",
"protein_id": "ENSP00000434376.1",
"transcript_support_level": 5,
"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": 1201,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000698837.1",
"protein_id": "ENSP00000513973.1",
"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": 3912,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000698838.1",
"protein_id": "ENSP00000513974.1",
"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": 4030,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000698839.1",
"protein_id": "ENSP00000513975.1",
"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": 3602,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.6_8delCAT",
"hgvs_p": null,
"transcript": "ENST00000698840.1",
"protein_id": "ENSP00000513976.1",
"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": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*52_*54delCAT",
"hgvs_p": null,
"transcript": "ENST00000414358.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.128,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001039660.2",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.6_8delCAT",
"hgvs_p": "p.Met3del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}