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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: 1-9733477-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9733477&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 9733477,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001009566.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Ser784Tyr",
"transcript": "NM_001009566.3",
"protein_id": "NP_001009566.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 981,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "ENST00000377298.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009566.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Ser784Tyr",
"transcript": "ENST00000377298.9",
"protein_id": "ENSP00000366513.4",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 981,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "NM_001009566.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377298.9"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2321C>A",
"hgvs_p": "p.Ser774Tyr",
"transcript": "ENST00000361311.4",
"protein_id": "ENSP00000354997.4",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 971,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361311.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2357C>A",
"hgvs_p": "p.Ser786Tyr",
"transcript": "ENST00000872287.1",
"protein_id": "ENSP00000542346.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 983,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872287.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Ser784Tyr",
"transcript": "ENST00000872285.1",
"protein_id": "ENSP00000542344.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 981,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872285.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2321C>A",
"hgvs_p": "p.Ser774Tyr",
"transcript": "NM_014944.4",
"protein_id": "NP_055759.3",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 971,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3114,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014944.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2321C>A",
"hgvs_p": "p.Ser774Tyr",
"transcript": "ENST00000932459.1",
"protein_id": "ENSP00000602518.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 971,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932459.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2318C>A",
"hgvs_p": "p.Ser773Tyr",
"transcript": "ENST00000960690.1",
"protein_id": "ENSP00000630749.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 970,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960690.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2315C>A",
"hgvs_p": "p.Ser772Tyr",
"transcript": "ENST00000872284.1",
"protein_id": "ENSP00000542343.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 969,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872284.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2315C>A",
"hgvs_p": "p.Ser772Tyr",
"transcript": "ENST00000960689.1",
"protein_id": "ENSP00000630748.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 969,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960689.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2297C>A",
"hgvs_p": "p.Ser766Tyr",
"transcript": "ENST00000872288.1",
"protein_id": "ENSP00000542347.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 963,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872288.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2294C>A",
"hgvs_p": "p.Ser765Tyr",
"transcript": "NM_001302883.1",
"protein_id": "NP_001289812.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 962,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302883.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2279C>A",
"hgvs_p": "p.Ser760Tyr",
"transcript": "ENST00000932463.1",
"protein_id": "ENSP00000602522.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 957,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932463.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2198C>A",
"hgvs_p": "p.Ser733Tyr",
"transcript": "ENST00000932460.1",
"protein_id": "ENSP00000602519.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 930,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932460.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2189C>A",
"hgvs_p": "p.Ser730Tyr",
"transcript": "ENST00000932462.1",
"protein_id": "ENSP00000602521.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 927,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2388,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932462.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2102C>A",
"hgvs_p": "p.Ser701Tyr",
"transcript": "ENST00000960691.1",
"protein_id": "ENSP00000630750.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 898,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960691.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2072C>A",
"hgvs_p": "p.Ser691Tyr",
"transcript": "ENST00000932458.1",
"protein_id": "ENSP00000602517.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 888,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932458.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.1985C>A",
"hgvs_p": "p.Ser662Tyr",
"transcript": "ENST00000872286.1",
"protein_id": "ENSP00000542345.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 859,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872286.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.1859C>A",
"hgvs_p": "p.Ser620Tyr",
"transcript": "ENST00000932461.1",
"protein_id": "ENSP00000602520.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 817,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932461.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.1754C>A",
"hgvs_p": "p.Ser585Tyr",
"transcript": "ENST00000435891.5",
"protein_id": "ENSP00000401934.1",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 782,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435891.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.1580C>A",
"hgvs_p": "p.Ser527Tyr",
"transcript": "ENST00000872289.1",
"protein_id": "ENSP00000542348.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 724,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872289.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "c.2264C>A",
"hgvs_p": "p.Ser755Tyr",
"transcript": "XM_047449470.1",
"protein_id": "XP_047305426.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 952,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449470.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "n.10C>A",
"hgvs_p": null,
"transcript": "ENST00000477264.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "n.*1260C>A",
"hgvs_p": null,
"transcript": "ENST00000650348.1",
"protein_id": "ENSP00000497950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"hgvs_c": "n.*1260C>A",
"hgvs_p": null,
"transcript": "ENST00000650348.1",
"protein_id": "ENSP00000497950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650348.1"
}
],
"gene_symbol": "CLSTN1",
"gene_hgnc_id": 17447,
"dbsnp": "rs754859166",
"frequency_reference_population": 0.0000055760493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410429,
"gnomad_genomes_af": 0.0000197161,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28972363471984863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.1279,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.026,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001009566.3",
"gene_symbol": "CLSTN1",
"hgnc_id": 17447,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Ser784Tyr"
}
],
"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
}