← 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: 9-32487629-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32487629&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 32487629,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014314.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "NM_014314.4",
"protein_id": "NP_055129.2",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 925,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379883.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014314.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "ENST00000379883.3",
"protein_id": "ENSP00000369213.2",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 925,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014314.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379883.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "c.1067T>C",
"hgvs_p": "p.Ile356Thr",
"transcript": "ENST00000681750.1",
"protein_id": "ENSP00000506413.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 875,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681750.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1214T>C",
"hgvs_p": "p.Ile405Thr",
"transcript": "ENST00000715271.1",
"protein_id": "ENSP00000520440.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 924,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715271.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1214T>C",
"hgvs_p": "p.Ile405Thr",
"transcript": "ENST00000896060.1",
"protein_id": "ENSP00000566119.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 924,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896060.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1211T>C",
"hgvs_p": "p.Ile404Thr",
"transcript": "NM_001385907.1",
"protein_id": "NP_001372836.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 923,
"cds_start": 1211,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385907.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1211T>C",
"hgvs_p": "p.Ile404Thr",
"transcript": "ENST00000715270.1",
"protein_id": "ENSP00000520439.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 923,
"cds_start": 1211,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715270.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1202T>C",
"hgvs_p": "p.Ile401Thr",
"transcript": "NM_001385913.1",
"protein_id": "NP_001372842.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 920,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385913.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1202T>C",
"hgvs_p": "p.Ile401Thr",
"transcript": "ENST00000896059.1",
"protein_id": "ENSP00000566118.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 920,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896059.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Ile361Thr",
"transcript": "ENST00000379868.6",
"protein_id": "ENSP00000369197.2",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 880,
"cds_start": 1082,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379868.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "ENST00000932231.1",
"protein_id": "ENSP00000602290.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 879,
"cds_start": 1079,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932231.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "ENST00000969568.1",
"protein_id": "ENSP00000639627.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 877,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969568.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "NM_001385909.1",
"protein_id": "NP_001372838.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 868,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385909.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "ENST00000896058.1",
"protein_id": "ENSP00000566117.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 868,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896058.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1004T>C",
"hgvs_p": "p.Ile335Thr",
"transcript": "ENST00000679665.1",
"protein_id": "ENSP00000504921.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 854,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679665.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.776T>C",
"hgvs_p": "p.Ile259Thr",
"transcript": "NM_001385910.1",
"protein_id": "NP_001372839.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 778,
"cds_start": 776,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385910.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Ile258Thr",
"transcript": "NM_001385914.1",
"protein_id": "NP_001372843.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 777,
"cds_start": 773,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385914.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "NM_001385912.1",
"protein_id": "NP_001372841.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 722,
"cds_start": 608,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.423+6132T>C",
"hgvs_p": null,
"transcript": "ENST00000896061.1",
"protein_id": "ENSP00000566120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": null,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.423+6132T>C",
"hgvs_p": null,
"transcript": "ENST00000679859.1",
"protein_id": "ENSP00000505702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*640T>C",
"hgvs_p": null,
"transcript": "ENST00000679771.1",
"protein_id": "ENSP00000505015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "n.*985T>C",
"hgvs_p": null,
"transcript": "ENST00000680198.1",
"protein_id": "ENSP00000505143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*985T>C",
"hgvs_p": null,
"transcript": "ENST00000680733.1",
"protein_id": "ENSP00000504892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.749T>C",
"hgvs_p": null,
"transcript": "ENST00000681352.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.923T>C",
"hgvs_p": null,
"transcript": "ENST00000681448.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.1217T>C",
"hgvs_p": null,
"transcript": "ENST00000715269.1",
"protein_id": "ENSP00000520438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*640T>C",
"hgvs_p": null,
"transcript": "ENST00000679771.1",
"protein_id": "ENSP00000505015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "n.*985T>C",
"hgvs_p": null,
"transcript": "ENST00000680198.1",
"protein_id": "ENSP00000505143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*985T>C",
"hgvs_p": null,
"transcript": "ENST00000680733.1",
"protein_id": "ENSP00000504892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680733.1"
}
],
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"dbsnp": "rs951618",
"frequency_reference_population": 0.0000681534,
"hom_count_reference_population": 0,
"allele_count_reference_population": 110,
"gnomad_exomes_af": 0.0000704678,
"gnomad_genomes_af": 0.000045948,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49023735523223877,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.2291,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.109,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014314.4",
"gene_symbol": "RIGI",
"hgnc_id": 19102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000681750.1",
"gene_symbol": "ENSG00000288684",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1067T>C",
"hgvs_p": "p.Ile356Thr"
}
],
"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
}