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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: 16-89651623-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89651623&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89651623,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000397901.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "NM_002768.5",
"protein_id": "NP_002759.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 196,
"cds_start": 51,
"cds_end": null,
"cds_length": 591,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "ENST00000397901.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "ENST00000397901.8",
"protein_id": "ENSP00000380998.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 196,
"cds_start": 51,
"cds_end": null,
"cds_length": 591,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "NM_002768.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001083314.4",
"protein_id": "NP_001076783.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 240,
"cds_start": 31,
"cds_end": null,
"cds_length": 723,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "XM_011523098.2",
"protein_id": "XP_011521400.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 408,
"cds_start": 31,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "ENST00000675536.1",
"protein_id": "ENSP00000501759.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 265,
"cds_start": 51,
"cds_end": null,
"cds_length": 798,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "ENST00000535997.7",
"protein_id": "ENSP00000442120.3",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 253,
"cds_start": 51,
"cds_end": null,
"cds_length": 762,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Lys20Lys",
"transcript": "ENST00000676355.1",
"protein_id": "ENSP00000502147.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 199,
"cds_start": 60,
"cds_end": null,
"cds_length": 600,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "ENST00000550102.5",
"protein_id": "ENSP00000449243.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 187,
"cds_start": 51,
"cds_end": null,
"cds_length": 564,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys",
"transcript": "ENST00000675778.1",
"protein_id": "ENSP00000502825.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 147,
"cds_start": 51,
"cds_end": null,
"cds_length": 444,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.164G>A",
"hgvs_p": null,
"transcript": "ENST00000547614.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000549328.2",
"protein_id": "ENSP00000447899.1",
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.160G>A",
"hgvs_p": null,
"transcript": "ENST00000550872.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.138G>A",
"hgvs_p": null,
"transcript": "ENST00000551981.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000675016.1",
"protein_id": "ENSP00000502282.1",
"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": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.47G>A",
"hgvs_p": null,
"transcript": "ENST00000675076.1",
"protein_id": null,
"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": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000675161.1",
"protein_id": "ENSP00000501615.1",
"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": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000675309.1",
"protein_id": "ENSP00000502291.1",
"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": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*490G>A",
"hgvs_p": null,
"transcript": "ENST00000675942.1",
"protein_id": "ENSP00000502409.1",
"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": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.320G>A",
"hgvs_p": null,
"transcript": "ENST00000675952.1",
"protein_id": null,
"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": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000676118.1",
"protein_id": "ENSP00000501619.1",
"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": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"transcript": "ENST00000676402.1",
"protein_id": "ENSP00000501794.1",
"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": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.171G>A",
"hgvs_p": null,
"transcript": "NR_046418.3",
"protein_id": null,
"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": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000674799.1",
"protein_id": "ENSP00000502267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000675909.1",
"protein_id": "ENSP00000502022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
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"cds_length": 399,
"cdna_start": null,
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"cdna_length": 2550,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "XM_047434195.1",
"protein_id": "XP_047290151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*490G>A",
"hgvs_p": null,
"transcript": "ENST00000675942.1",
"protein_id": "ENSP00000502409.1",
"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": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"dbsnp": "rs187184327",
"frequency_reference_population": 0.0006779216,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1094,
"gnomad_exomes_af": 0.000629532,
"gnomad_genomes_af": 0.00114208,
"gnomad_exomes_ac": 920,
"gnomad_genomes_ac": 174,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.116,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000397901.8",
"gene_symbol": "CHMP1A",
"hgnc_id": 8740,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Lys17Lys"
}
],
"clinvar_disease": "CHMP1A-related disorder,Pontocerebellar hypoplasia type 8,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "not specified|not provided|Pontocerebellar hypoplasia type 8|CHMP1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}