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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: 6-126010399-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=126010399&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 126010399,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000334379.11",
"consequences": [
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.761-854C>A",
"hgvs_p": null,
"transcript": "NM_001031712.3",
"protein_id": "NP_001026882.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "ENST00000334379.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.761-854C>A",
"hgvs_p": null,
"transcript": "ENST00000334379.11",
"protein_id": "ENSP00000333934.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "NM_001031712.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "n.*181-854C>A",
"hgvs_p": null,
"transcript": "ENST00000466316.1",
"protein_id": "ENSP00000466001.3",
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "n.*176-854C>A",
"hgvs_p": null,
"transcript": "ENST00000479748.5",
"protein_id": "ENSP00000433724.1",
"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": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-508C>A",
"hgvs_p": null,
"transcript": "NM_001350590.2",
"protein_id": "NP_001337519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-508C>A",
"hgvs_p": null,
"transcript": "NM_001350593.2",
"protein_id": "NP_001337522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.761-854C>A",
"hgvs_p": null,
"transcript": "ENST00000368332.7",
"protein_id": "ENSP00000357316.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.725-854C>A",
"hgvs_p": null,
"transcript": "NM_001350580.2",
"protein_id": "NP_001337509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.572-854C>A",
"hgvs_p": null,
"transcript": "NM_001350581.2",
"protein_id": "NP_001337510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.572-854C>A",
"hgvs_p": null,
"transcript": "NM_001350582.2",
"protein_id": "NP_001337511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.572-854C>A",
"hgvs_p": null,
"transcript": "NM_001350583.2",
"protein_id": "NP_001337512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
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"cds_length": 1203,
"cdna_start": null,
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"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.572-854C>A",
"hgvs_p": null,
"transcript": "NM_001350584.2",
"protein_id": "NP_001337513.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.167-854C>A",
"hgvs_p": null,
"transcript": "NM_001350585.2",
"protein_id": "NP_001337514.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 265,
"cds_start": -4,
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"cds_length": 798,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350586.2",
"protein_id": "NP_001337515.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "TRMT11",
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"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350587.2",
"protein_id": "NP_001337516.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350588.2",
"protein_id": "NP_001337517.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350589.2",
"protein_id": "NP_001337518.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350591.2",
"protein_id": "NP_001337520.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350592.2",
"protein_id": "NP_001337521.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TRMT11",
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"hgvs_c": "c.-267-526C>A",
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"transcript": "NM_001350594.2",
"protein_id": "NP_001337523.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
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"transcript": "NM_001350595.2",
"protein_id": "NP_001337524.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350596.2",
"protein_id": "NP_001337525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"hgvs_c": "c.-267-526C>A",
"hgvs_p": null,
"transcript": "NM_001350597.2",
"protein_id": "NP_001337526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 8,
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"gene_symbol": "TRMT11",
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"transcript": "XR_007059327.1",
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"cds_start": -4,
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"cdna_length": 7307,
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"feature": null
}
],
"gene_symbol": "TRMT11",
"gene_hgnc_id": 21080,
"dbsnp": "rs10485179",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.296,
"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": -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": "ENST00000334379.11",
"gene_symbol": "TRMT11",
"hgnc_id": 21080,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.761-854C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}