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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: 1-11070943-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11070943&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11070943,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001001998.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2273A>G",
"hgvs_p": "p.Lys758Arg",
"transcript": "NM_001001998.3",
"protein_id": "NP_001001998.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 885,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": "ENST00000376936.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001998.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2273A>G",
"hgvs_p": "p.Lys758Arg",
"transcript": "ENST00000376936.9",
"protein_id": "ENSP00000366135.4",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 885,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": "NM_001001998.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376936.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.Lys733Arg",
"transcript": "ENST00000304457.11",
"protein_id": "ENSP00000307307.7",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 860,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304457.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2318A>G",
"hgvs_p": "p.Lys773Arg",
"transcript": "ENST00000921096.1",
"protein_id": "ENSP00000591155.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 900,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921096.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Lys765Arg",
"transcript": "ENST00000869360.1",
"protein_id": "ENSP00000539419.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 892,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869360.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Lys763Arg",
"transcript": "ENST00000869358.1",
"protein_id": "ENSP00000539417.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 890,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869358.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2270A>G",
"hgvs_p": "p.Lys757Arg",
"transcript": "ENST00000921094.1",
"protein_id": "ENSP00000591153.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 884,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921094.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2270A>G",
"hgvs_p": "p.Lys757Arg",
"transcript": "ENST00000921097.1",
"protein_id": "ENSP00000591156.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 884,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921097.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2267A>G",
"hgvs_p": "p.Lys756Arg",
"transcript": "ENST00000971056.1",
"protein_id": "ENSP00000641115.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 883,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971056.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2222A>G",
"hgvs_p": "p.Lys741Arg",
"transcript": "ENST00000869359.1",
"protein_id": "ENSP00000539418.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 868,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869359.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Lys740Arg",
"transcript": "ENST00000971057.1",
"protein_id": "ENSP00000641116.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 867,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971057.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Lys738Arg",
"transcript": "ENST00000921093.1",
"protein_id": "ENSP00000591152.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 865,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921093.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Lys738Arg",
"transcript": "ENST00000971059.1",
"protein_id": "ENSP00000641118.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 865,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971059.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.Lys733Arg",
"transcript": "NM_002685.4",
"protein_id": "NP_002676.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 860,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002685.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2189A>G",
"hgvs_p": "p.Lys730Arg",
"transcript": "ENST00000921095.1",
"protein_id": "ENSP00000591154.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 857,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921095.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Lys723Arg",
"transcript": "ENST00000921099.1",
"protein_id": "ENSP00000591158.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 850,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921099.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2087A>G",
"hgvs_p": "p.Lys696Arg",
"transcript": "ENST00000921098.1",
"protein_id": "ENSP00000591157.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 823,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921098.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Lys626Arg",
"transcript": "ENST00000971058.1",
"protein_id": "ENSP00000641117.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 753,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971058.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Lys763Arg",
"transcript": "XM_005263475.3",
"protein_id": "XP_005263532.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 890,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263475.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Lys347Arg",
"transcript": "XM_047422661.1",
"protein_id": "XP_047278617.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422661.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
"gene_hgnc_id": 9138,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Lys331Arg",
"transcript": "XM_047422663.1",
"protein_id": "XP_047278619.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 458,
"cds_start": 992,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422663.1"
},
{
"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": "EXOSC10-AS1",
"gene_hgnc_id": 40456,
"hgvs_c": "n.528T>C",
"hgvs_p": null,
"transcript": "ENST00000452378.1",
"protein_id": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000452378.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC10",
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"transcript": "ENST00000469634.5",
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"biotype": "retained_intron",
"feature": "ENST00000469634.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 13,
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"gene_symbol": "EXOSC10",
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"hgvs_c": "n.1525A>G",
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"transcript": "ENST00000474216.5",
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"biotype": "retained_intron",
"feature": "ENST00000474216.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "EXOSC10",
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"transcript": "ENST00000478271.1",
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"biotype": "retained_intron",
"feature": "ENST00000478271.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "EXOSC10-AS1",
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"hgvs_c": "n.774+9870T>C",
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"transcript": "ENST00000715292.1",
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"biotype": "pseudogene",
"feature": "ENST00000715292.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "EXOSC10-AS1",
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"hgvs_c": "n.249+2230T>C",
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"transcript": "ENST00000715293.1",
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"cds_end": null,
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"cdna_length": 554,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715293.1"
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],
"gene_symbol": "EXOSC10",
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"dbsnp": "rs374822877",
"frequency_reference_population": 0.00002602195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000266787,
"gnomad_genomes_af": 0.000019713,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04241698980331421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.726,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001001998.3",
"gene_symbol": "EXOSC10",
"hgnc_id": 9138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2273A>G",
"hgvs_p": "p.Lys758Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000452378.1",
"gene_symbol": "EXOSC10-AS1",
"hgnc_id": 40456,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.528T>C",
"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
}