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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: 17-59677123-A-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59677123&ref=A&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59677123,
"ref": "A",
"alt": "AAG",
"effect": "frameshift_variant",
"transcript": "ENST00000269122.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "NM_004859.4",
"protein_id": "NP_004850.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1675,
"cds_start": 2739,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 8369,
"mane_select": "ENST00000269122.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000269122.8",
"protein_id": "ENSP00000269122.3",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1675,
"cds_start": 2739,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 8369,
"mane_select": "NM_004859.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000393043.5",
"protein_id": "ENSP00000376763.1",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1639,
"cds_start": 2739,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2854_2855dupGA",
"hgvs_p": "p.Asp952fs",
"transcript": "ENST00000700714.2",
"protein_id": "ENSP00000515154.2",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1721,
"cds_start": 2856,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000472651.6",
"protein_id": "ENSP00000465200.2",
"transcript_support_level": 2,
"aa_start": 913,
"aa_end": null,
"aa_length": 1682,
"cds_start": 2739,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2752_2753dupGA",
"hgvs_p": "p.Asp918fs",
"transcript": "ENST00000700709.1",
"protein_id": "ENSP00000515149.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1680,
"cds_start": 2754,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 6073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2749_2750dupGA",
"hgvs_p": "p.Asp917fs",
"transcript": "NM_001288653.2",
"protein_id": "NP_001275582.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1679,
"cds_start": 2751,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 8381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2749_2750dupGA",
"hgvs_p": "p.Asp917fs",
"transcript": "ENST00000580081.2",
"protein_id": "ENSP00000462592.2",
"transcript_support_level": 4,
"aa_start": 917,
"aa_end": null,
"aa_length": 1679,
"cds_start": 2751,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2749_2750dupGA",
"hgvs_p": "p.Asp917fs",
"transcript": "ENST00000700711.1",
"protein_id": "ENSP00000515151.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1679,
"cds_start": 2751,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2740_2741dupGA",
"hgvs_p": "p.Asp914fs",
"transcript": "ENST00000700713.1",
"protein_id": "ENSP00000515153.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1676,
"cds_start": 2742,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000700707.1",
"protein_id": "ENSP00000515147.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1675,
"cds_start": 2739,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2716_2717dupGA",
"hgvs_p": "p.Asp906fs",
"transcript": "ENST00000714242.1",
"protein_id": "ENSP00000519522.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1668,
"cds_start": 2718,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000700715.2",
"protein_id": "ENSP00000515155.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1656,
"cds_start": 2739,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 3046,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2644_2645dupGA",
"hgvs_p": "p.Asp882fs",
"transcript": "ENST00000700712.1",
"protein_id": "ENSP00000515152.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1651,
"cds_start": 2646,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3069,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2644_2645dupGA",
"hgvs_p": "p.Asp882fs",
"transcript": "ENST00000714180.1",
"protein_id": "ENSP00000519469.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2646,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 3005,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2626_2627dupGA",
"hgvs_p": "p.Asp876fs",
"transcript": "ENST00000714241.1",
"protein_id": "ENSP00000519521.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1638,
"cds_start": 2628,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000475458.3",
"protein_id": "ENSP00000461977.3",
"transcript_support_level": 2,
"aa_start": 913,
"aa_end": null,
"aa_length": 1629,
"cds_start": 2739,
"cds_end": null,
"cds_length": 4890,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs",
"transcript": "ENST00000714182.1",
"protein_id": "ENSP00000519471.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1618,
"cds_start": 2739,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2563_2564dupGA",
"hgvs_p": "p.Asp855fs",
"transcript": "ENST00000700708.1",
"protein_id": "ENSP00000515148.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1617,
"cds_start": 2565,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 6013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.2449_2450dupGA",
"hgvs_p": "p.Asp817fs",
"transcript": "ENST00000700710.1",
"protein_id": "ENSP00000515150.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1579,
"cds_start": 2451,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 5842,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.597_598dupGA",
"hgvs_p": null,
"transcript": "ENST00000579815.1",
"protein_id": null,
"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": 609,
"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": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.2737_2738dupGA",
"hgvs_p": null,
"transcript": "ENST00000714181.1",
"protein_id": "ENSP00000519470.1",
"transcript_support_level": null,
"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": 6161,
"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": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
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"transcript": "ENST00000714243.1",
"protein_id": "ENSP00000519523.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
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"transcript": "ENST00000714243.1",
"protein_id": "ENSP00000519523.1",
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"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": 14,
"intron_rank": 3,
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"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.301-5189_301-5188dupGA",
"hgvs_p": null,
"transcript": "ENST00000579456.5",
"protein_id": "ENSP00000462252.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
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"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTRH2",
"gene_hgnc_id": 24265,
"hgvs_c": "n.223+2242_223+2243dupCT",
"hgvs_p": null,
"transcript": "ENST00000587935.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"dbsnp": "rs797044884",
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.215,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000269122.8",
"gene_symbol": "CLTC",
"hgnc_id": 2092,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2737_2738dupGA",
"hgvs_p": "p.Asp913fs"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587935.1",
"gene_symbol": "PTRH2",
"hgnc_id": 24265,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.223+2242_223+2243dupCT",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 56,Inborn genetic diseases,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases|Intellectual disability, autosomal dominant 56",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}