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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: 19-49010023-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49010023&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49010023,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006666.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "NM_006666.3",
"protein_id": "NP_006657.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 463,
"cds_start": 620,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000595090.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006666.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000595090.6",
"protein_id": "ENSP00000473172.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 463,
"cds_start": 620,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006666.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595090.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.609G>A",
"hgvs_p": null,
"transcript": "ENST00000221413.10",
"protein_id": "ENSP00000221413.6",
"transcript_support_level": 1,
"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": "ENST00000221413.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000888169.1",
"protein_id": "ENSP00000558228.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 470,
"cds_start": 641,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888169.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206His",
"transcript": "ENST00000888165.1",
"protein_id": "ENSP00000558224.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 462,
"cds_start": 617,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888165.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000888166.1",
"protein_id": "ENSP00000558225.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 462,
"cds_start": 620,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888166.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000940726.1",
"protein_id": "ENSP00000610785.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 461,
"cds_start": 620,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940726.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204His",
"transcript": "ENST00000940727.1",
"protein_id": "ENSP00000610786.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 460,
"cds_start": 611,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940727.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000888170.1",
"protein_id": "ENSP00000558229.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 458,
"cds_start": 620,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888170.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000888168.1",
"protein_id": "ENSP00000558227.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 448,
"cds_start": 620,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888168.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "NM_001321190.2",
"protein_id": "NP_001308119.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 429,
"cds_start": 518,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321190.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "NM_001321191.1",
"protein_id": "NP_001308120.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 418,
"cds_start": 485,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321191.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"transcript": "ENST00000888167.1",
"protein_id": "ENSP00000558226.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 405,
"cds_start": 446,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "ENST00000601968.5",
"protein_id": "ENSP00000471524.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 354,
"cds_start": 485,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601968.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "ENST00000627972.1",
"protein_id": "ENSP00000486242.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 354,
"cds_start": 485,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627972.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000940729.1",
"protein_id": "ENSP00000610788.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 350,
"cds_start": 281,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940729.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000940728.1",
"protein_id": "ENSP00000610787.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 278,
"cds_start": 620,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940728.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "c.395+2876G>A",
"hgvs_p": null,
"transcript": "ENST00000940725.1",
"protein_id": "ENSP00000610784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.642G>A",
"hgvs_p": null,
"transcript": "ENST00000594017.5",
"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": "ENST00000594017.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.608G>A",
"hgvs_p": null,
"transcript": "ENST00000594338.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000594338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.*537G>A",
"hgvs_p": null,
"transcript": "ENST00000596247.5",
"protein_id": "ENSP00000471538.1",
"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": "ENST00000596247.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.634G>A",
"hgvs_p": null,
"transcript": "NR_135578.2",
"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_135578.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.*537G>A",
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"transcript": "ENST00000596247.5",
"protein_id": "ENSP00000471538.1",
"transcript_support_level": 2,
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"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": "ENST00000596247.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"hgvs_c": "n.*832G>A",
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"transcript": "ENST00000593570.5",
"protein_id": "ENSP00000469488.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000593570.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6798",
"gene_hgnc_id": 50013,
"hgvs_c": "n.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000612887.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000612887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6798",
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"hgvs_c": "n.*51G>A",
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"transcript": "NR_106856.1",
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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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106856.1"
},
{
"aa_ref": null,
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"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6798",
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"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_3287",
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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,
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"biotype": "miRNA",
"feature": "unassigned_transcript_3287"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6798",
"gene_hgnc_id": 50013,
"hgvs_c": "n.*51G>A",
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"transcript": "unassigned_transcript_3288",
"protein_id": null,
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"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": "miRNA",
"feature": "unassigned_transcript_3288"
}
],
"gene_symbol": "RUVBL2",
"gene_hgnc_id": 10475,
"dbsnp": "rs762109573",
"frequency_reference_population": 0.000016337159,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000138955,
"gnomad_genomes_af": 0.0000394337,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8845188617706299,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.607,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.62,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006666.3",
"gene_symbol": "RUVBL2",
"hgnc_id": 10475,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_106856.1",
"gene_symbol": "MIR6798",
"hgnc_id": 50013,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*51G>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
}