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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: 12-106885968-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106885968&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106885968,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330145.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Leu546Phe",
"transcript": "NM_001330145.2",
"protein_id": "NP_001317074.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 560,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392837.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330145.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Leu546Phe",
"transcript": "ENST00000392837.9",
"protein_id": "ENSP00000376582.4",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 560,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330145.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392837.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Leu506Phe",
"transcript": "ENST00000392839.6",
"protein_id": "ENSP00000376583.2",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 520,
"cds_start": 1516,
"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": "ENST00000392839.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000355478.6",
"protein_id": "ENSP00000347662.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355478.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Leu538Phe",
"transcript": "NM_001351361.2",
"protein_id": "NP_001338290.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 552,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351361.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Leu530Phe",
"transcript": "NM_001330146.2",
"protein_id": "NP_001317075.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 544,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330146.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Leu506Phe",
"transcript": "NM_018157.4",
"protein_id": "NP_060627.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 520,
"cds_start": 1516,
"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": "NM_018157.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Leu498Phe",
"transcript": "NM_001351362.2",
"protein_id": "NP_001338291.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 512,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351362.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Leu490Phe",
"transcript": "NM_001351363.2",
"protein_id": "NP_001338292.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 504,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351363.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Leu458Phe",
"transcript": "NM_001351366.2",
"protein_id": "NP_001338295.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 472,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351366.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Leu418Phe",
"transcript": "NM_001351367.2",
"protein_id": "NP_001338296.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 432,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351367.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000549643.5",
"protein_id": "ENSP00000450396.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 30,
"cds_start": 46,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549643.5"
},
{
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_001330147.2",
"protein_id": "NP_001317076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": null,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330147.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_001351364.2",
"protein_id": "NP_001338293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351364.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*424C>T",
"hgvs_p": null,
"transcript": "ENST00000462949.5",
"protein_id": "ENSP00000435301.1",
"transcript_support_level": 2,
"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": "ENST00000462949.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*661C>T",
"hgvs_p": null,
"transcript": "ENST00000470960.1",
"protein_id": "ENSP00000436359.1",
"transcript_support_level": 2,
"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": "ENST00000470960.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*189C>T",
"hgvs_p": null,
"transcript": "ENST00000546449.2",
"protein_id": "ENSP00000464118.1",
"transcript_support_level": 5,
"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": "ENST00000546449.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.285C>T",
"hgvs_p": null,
"transcript": "ENST00000551756.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000551756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.2099C>T",
"hgvs_p": null,
"transcript": "NR_147131.2",
"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": "pseudogene",
"feature": "NR_147131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1522C>T",
"hgvs_p": null,
"transcript": "NR_147132.2",
"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": "pseudogene",
"feature": "NR_147132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.2016C>T",
"hgvs_p": null,
"transcript": "NR_147133.2",
"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": "pseudogene",
"feature": "NR_147133.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1867C>T",
"hgvs_p": null,
"transcript": "NR_147134.2",
"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": "pseudogene",
"feature": "NR_147134.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "RIC8B",
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"transcript": "NR_147135.2",
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147135.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "RIC8B",
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"biotype": "pseudogene",
"feature": "NR_147136.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.1843C>T",
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"biotype": "pseudogene",
"feature": "NR_147137.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.2012C>T",
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"biotype": "pseudogene",
"feature": "NR_147138.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
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"intron_rank_end": null,
"gene_symbol": "RIC8B",
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"hgvs_c": "n.1435C>T",
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"transcript": "NR_147139.2",
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"biotype": "pseudogene",
"feature": "NR_147139.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*424C>T",
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"transcript": "ENST00000462949.5",
"protein_id": "ENSP00000435301.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462949.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*661C>T",
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"transcript": "ENST00000470960.1",
"protein_id": "ENSP00000436359.1",
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"aa_end": null,
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470960.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.*189C>T",
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"transcript": "ENST00000546449.2",
"protein_id": "ENSP00000464118.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546449.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "ENSG00000295573",
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"hgvs_c": "n.423-413G>A",
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"transcript": "ENST00000731014.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000731014.1"
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],
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"dbsnp": "rs1252609396",
"frequency_reference_population": 0.0000049576247,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000205255,
"gnomad_genomes_af": 0.0000328783,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1367451250553131,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1226,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.439,
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001330145.2",
"gene_symbol": "RIC8B",
"hgnc_id": 25555,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Leu546Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000731014.1",
"gene_symbol": "ENSG00000295573",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.423-413G>A",
"hgvs_p": null
}
],
"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
}