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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: 4-153315996-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153315996&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153315996,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000338700.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1781delA",
"hgvs_p": "p.Lys594fs",
"transcript": "NM_015271.5",
"protein_id": "NP_056086.2",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 771,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "ENST00000338700.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1781delA",
"hgvs_p": "p.Lys594fs",
"transcript": "ENST00000338700.10",
"protein_id": "ENSP00000339659.5",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 771,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "NM_015271.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 898,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000437508.7",
"protein_id": "ENSP00000415812.2",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 744,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000494872.6",
"protein_id": "ENSP00000488229.2",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 681,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 902,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 898,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1874delA",
"hgvs_p": "p.Lys625fs",
"transcript": "NM_001375488.1",
"protein_id": "NP_001362417.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 802,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1871delA",
"hgvs_p": "p.Lys624fs",
"transcript": "NM_001375489.1",
"protein_id": "NP_001362418.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 801,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1847delA",
"hgvs_p": "p.Lys616fs",
"transcript": "ENST00000674847.1",
"protein_id": "ENSP00000501983.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 797,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 6967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1367delA",
"hgvs_p": "p.Lys456fs",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 787,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1781delA",
"hgvs_p": "p.Lys594fs",
"transcript": "NM_001438618.1",
"protein_id": "NP_001425547.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 775,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1793delA",
"hgvs_p": "p.Lys598fs",
"transcript": "ENST00000675063.1",
"protein_id": "ENSP00000501562.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 775,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1956,
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"cdna_length": 6836,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1793delA",
"hgvs_p": "p.Lys598fs",
"transcript": "ENST00000675673.1",
"protein_id": "ENSP00000502083.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
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"cds_start": 1793,
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"cdna_start": 1961,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1778delA",
"hgvs_p": "p.Lys593fs",
"transcript": "NM_001438619.1",
"protein_id": "NP_001425548.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 774,
"cds_start": 1778,
"cds_end": null,
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"cdna_start": 1866,
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"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1778delA",
"hgvs_p": "p.Lys593fs",
"transcript": "NM_001438620.1",
"protein_id": "NP_001425549.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 770,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Lys585fs",
"transcript": "NM_001351054.2",
"protein_id": "NP_001337983.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 766,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Lys585fs",
"transcript": "ENST00000674935.1",
"protein_id": "ENSP00000501672.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
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"cds_start": 1754,
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"cdna_start": 2012,
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"cdna_length": 6896,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1751delA",
"hgvs_p": "p.Lys584fs",
"transcript": "NM_001351055.2",
"protein_id": "NP_001337984.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 765,
"cds_start": 1751,
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"cdna_start": 1977,
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"cdna_length": 6875,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1751delA",
"hgvs_p": "p.Lys584fs",
"transcript": "ENST00000674726.1",
"protein_id": "ENSP00000502266.1",
"transcript_support_level": null,
"aa_start": 584,
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"cds_start": 1751,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Lys585fs",
"transcript": "ENST00000675977.1",
"protein_id": "ENSP00000501671.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 762,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1751delA",
"hgvs_p": "p.Lys584fs",
"transcript": "ENST00000674896.1",
"protein_id": "ENSP00000501725.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 761,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2009,
"cdna_end": null,
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],
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"transcript": "ENST00000676220.1",
"protein_id": "ENSP00000501629.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
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"exon_count": 9,
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"gene_symbol": "TRIM2",
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"transcript": "ENST00000676224.1",
"protein_id": "ENSP00000502745.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 9,
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"gene_symbol": "TRIM2",
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"hgvs_c": "n.*223delA",
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"transcript": "ENST00000676291.1",
"protein_id": "ENSP00000502141.1",
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"cdna_length": 5835,
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"feature": null
}
],
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"dbsnp": "rs587777838",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000338700.10",
"gene_symbol": "TRIM2",
"hgnc_id": 15974,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1781delA",
"hgvs_p": "p.Lys594fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675838.1",
"gene_symbol": "ENSG00000288637",
"hgnc_id": null,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2R",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2R",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}