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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: 1-11076849-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11076849&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11076849,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001001998.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "NM_001001998.3",
"protein_id": "NP_001001998.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 885,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376936.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001998.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "ENST00000376936.9",
"protein_id": "ENSP00000366135.4",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 885,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001998.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376936.9"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "ENST00000304457.11",
"protein_id": "ENSP00000307307.7",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 860,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304457.11"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "ENST00000921096.1",
"protein_id": "ENSP00000591155.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 900,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921096.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2000T>C",
"hgvs_p": "p.Leu667Ser",
"transcript": "ENST00000869360.1",
"protein_id": "ENSP00000539419.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 892,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869360.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "ENST00000869358.1",
"protein_id": "ENSP00000539417.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 890,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869358.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1976T>C",
"hgvs_p": "p.Leu659Ser",
"transcript": "ENST00000921094.1",
"protein_id": "ENSP00000591153.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 884,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921094.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1976T>C",
"hgvs_p": "p.Leu659Ser",
"transcript": "ENST00000921097.1",
"protein_id": "ENSP00000591156.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 884,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921097.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Leu658Ser",
"transcript": "ENST00000971056.1",
"protein_id": "ENSP00000641115.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 883,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971056.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1928T>C",
"hgvs_p": "p.Leu643Ser",
"transcript": "ENST00000869359.1",
"protein_id": "ENSP00000539418.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 868,
"cds_start": 1928,
"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": "ENST00000869359.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2000T>C",
"hgvs_p": "p.Leu667Ser",
"transcript": "ENST00000971057.1",
"protein_id": "ENSP00000641116.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 867,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971057.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "ENST00000921093.1",
"protein_id": "ENSP00000591152.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 865,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921093.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1919T>C",
"hgvs_p": "p.Leu640Ser",
"transcript": "ENST00000971059.1",
"protein_id": "ENSP00000641118.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 865,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971059.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "NM_002685.4",
"protein_id": "NP_002676.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 860,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002685.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1895T>C",
"hgvs_p": "p.Leu632Ser",
"transcript": "ENST00000921095.1",
"protein_id": "ENSP00000591154.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 857,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921095.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1874T>C",
"hgvs_p": "p.Leu625Ser",
"transcript": "ENST00000921099.1",
"protein_id": "ENSP00000591158.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 850,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921099.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser",
"transcript": "XM_005263475.3",
"protein_id": "XP_005263532.2",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 890,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263475.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Ser",
"transcript": "XM_047422661.1",
"protein_id": "XP_047278617.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 474,
"cds_start": 731,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422661.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Ser",
"transcript": "XM_047422663.1",
"protein_id": "XP_047278619.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 458,
"cds_start": 683,
"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": "XM_047422663.1"
},
{
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1800+752T>C",
"hgvs_p": null,
"transcript": "ENST00000921098.1",
"protein_id": "ENSP00000591157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921098.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1726-2880T>C",
"hgvs_p": null,
"transcript": "ENST00000971058.1",
"protein_id": "ENSP00000641117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": null,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971058.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "n.355T>C",
"hgvs_p": null,
"transcript": "ENST00000470611.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000470611.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "n.1216T>C",
"hgvs_p": null,
"transcript": "ENST00000474216.5",
"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": "ENST00000474216.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOSC10-AS1",
"gene_hgnc_id": 40456,
"hgvs_c": "n.774+15776A>G",
"hgvs_p": null,
"transcript": "ENST00000715292.1",
"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": "pseudogene",
"feature": "ENST00000715292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOSC10-AS1",
"gene_hgnc_id": 40456,
"hgvs_c": "n.249+8136A>G",
"hgvs_p": null,
"transcript": "ENST00000715293.1",
"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": "pseudogene",
"feature": "ENST00000715293.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "n.*160T>C",
"hgvs_p": null,
"transcript": "ENST00000498576.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000498576.1"
}
],
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"dbsnp": "rs369040494",
"frequency_reference_population": 0.000004343472,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000205563,
"gnomad_genomes_af": 0.0000262805,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22491881251335144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.5423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.846,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001001998.3",
"gene_symbol": "EXOSC10",
"hgnc_id": 9138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Leu660Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715292.1",
"gene_symbol": "EXOSC10-AS1",
"hgnc_id": 40456,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.774+15776A>G",
"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
}