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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: 9-37770723-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37770723&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37770723,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144964.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asp235Val",
"transcript": "NM_144964.4",
"protein_id": "NP_659401.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 316,
"cds_start": 704,
"cds_end": null,
"cds_length": 951,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": "ENST00000297994.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asp235Val",
"transcript": "ENST00000297994.4",
"protein_id": "ENSP00000297994.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 316,
"cds_start": 704,
"cds_end": null,
"cds_length": 951,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": "NM_144964.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.*291A>T",
"hgvs_p": null,
"transcript": "ENST00000488673.6",
"protein_id": "ENSP00000437395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.*291A>T",
"hgvs_p": null,
"transcript": "ENST00000488673.6",
"protein_id": "ENSP00000437395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255872",
"gene_hgnc_id": null,
"hgvs_c": "n.*910+13191T>A",
"hgvs_p": null,
"transcript": "ENST00000540557.1",
"protein_id": "ENSP00000457548.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.551A>T",
"hgvs_p": "p.Asp184Val",
"transcript": "NM_001286950.2",
"protein_id": "NP_001273879.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 256,
"cds_start": 551,
"cds_end": null,
"cds_length": 771,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.551A>T",
"hgvs_p": "p.Asp184Val",
"transcript": "ENST00000537911.5",
"protein_id": "ENSP00000444997.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 256,
"cds_start": 551,
"cds_end": null,
"cds_length": 771,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Asp157Val",
"transcript": "NM_001286952.2",
"protein_id": "NP_001273881.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 229,
"cds_start": 470,
"cds_end": null,
"cds_length": 690,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Asp157Val",
"transcript": "ENST00000377753.6",
"protein_id": "ENSP00000366982.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 229,
"cds_start": 470,
"cds_end": null,
"cds_length": 690,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Asp140Val",
"transcript": "NM_001286951.2",
"protein_id": "NP_001273880.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 221,
"cds_start": 419,
"cds_end": null,
"cds_length": 666,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Asp140Val",
"transcript": "ENST00000377754.6",
"protein_id": "ENSP00000366983.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 221,
"cds_start": 419,
"cds_end": null,
"cds_length": 666,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Asp124Val",
"transcript": "NM_001286953.2",
"protein_id": "NP_001273882.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 196,
"cds_start": 371,
"cds_end": null,
"cds_length": 591,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Asp124Val",
"transcript": "NM_001286954.2",
"protein_id": "NP_001273883.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 196,
"cds_start": 371,
"cds_end": null,
"cds_length": 591,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "XM_011517735.4",
"protein_id": "XP_011516037.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 329,
"cds_start": 743,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "XM_011517736.4",
"protein_id": "XP_011516038.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 320,
"cds_start": 743,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asp235Val",
"transcript": "XM_024447426.2",
"protein_id": "XP_024303194.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 307,
"cds_start": 704,
"cds_end": null,
"cds_length": 924,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "XM_047422833.1",
"protein_id": "XP_047278789.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 295,
"cds_start": 743,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "XM_017014313.3",
"protein_id": "XP_016869802.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 285,
"cds_start": 743,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Asp170Val",
"transcript": "XM_011517738.3",
"protein_id": "XP_011516040.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 251,
"cds_start": 509,
"cds_end": null,
"cds_length": 756,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Asp170Val",
"transcript": "XM_011517739.4",
"protein_id": "XP_011516041.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 242,
"cds_start": 509,
"cds_end": null,
"cds_length": 729,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Asp157Val",
"transcript": "XM_005251375.3",
"protein_id": "XP_005251432.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 238,
"cds_start": 470,
"cds_end": null,
"cds_length": 717,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.308A>T",
"hgvs_p": "p.Asp103Val",
"transcript": "XM_047422834.1",
"protein_id": "XP_047278790.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.515A>T",
"hgvs_p": null,
"transcript": "ENST00000509577.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
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},
{
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"transcript": "NR_104612.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 7,
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"gene_symbol": "TRMT10B",
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"hgvs_c": "n.814A>T",
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"transcript": "XR_007061248.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "TRMT10B",
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"transcript": "ENST00000537016.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "EXOSC3",
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"transcript": "ENST00000465229.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "EXOSC3",
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"transcript": "ENST00000678095.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "EXOSC3",
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"hgvs_c": "n.*203-8530T>A",
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"transcript": "ENST00000679059.1",
"protein_id": "ENSP00000503947.1",
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}
],
"gene_symbol": "TRMT10B",
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"dbsnp": null,
"frequency_reference_population": 0.000002052458,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205246,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9864513874053955,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.773,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.783,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_144964.4",
"gene_symbol": "TRMT10B",
"hgnc_id": 26454,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asp235Val"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000540557.1",
"gene_symbol": "ENSG00000255872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*910+13191T>A",
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},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000465229.5",
"gene_symbol": "EXOSC3",
"hgnc_id": 17944,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*586-3218T>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
}