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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: 11-1835301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1835301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1835301,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001290332.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "NM_001394072.1",
"protein_id": "NP_001381001.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394072.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000341958.4",
"protein_id": "ENSP00000343691.3",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394072.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341958.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000381978.7",
"protein_id": "ENSP00000371406.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 399,
"cds_start": 136,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381978.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.100C>A",
"hgvs_p": null,
"transcript": "ENST00000482118.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.1510C>A",
"hgvs_p": null,
"transcript": "ENST00000490707.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490707.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "NM_001290332.2",
"protein_id": "NP_001277261.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 402,
"cds_start": 145,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290332.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "NM_001290333.2",
"protein_id": "NP_001277262.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 401,
"cds_start": 142,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290333.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "NM_138567.5",
"protein_id": "NP_612634.4",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 401,
"cds_start": 142,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138567.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "ENST00000381968.7",
"protein_id": "ENSP00000371394.3",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 401,
"cds_start": 142,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381968.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "NM_001290334.2",
"protein_id": "NP_001277263.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 400,
"cds_start": 139,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290334.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000852977.1",
"protein_id": "ENSP00000523036.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852977.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000852978.1",
"protein_id": "ENSP00000523037.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852978.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000852979.1",
"protein_id": "ENSP00000523038.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852979.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000970785.1",
"protein_id": "ENSP00000640844.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970785.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000970786.1",
"protein_id": "ENSP00000640845.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 331,
"cds_start": 100,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970786.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000430303.5",
"protein_id": "ENSP00000392469.1",
"transcript_support_level": 4,
"aa_start": 34,
"aa_end": null,
"aa_length": 101,
"cds_start": 100,
"cds_end": null,
"cds_length": 307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430303.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "ENST00000417052.5",
"protein_id": "ENSP00000387678.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 98,
"cds_start": 100,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417052.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "XM_011520455.2",
"protein_id": "XP_011518757.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520455.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "XM_017018528.2",
"protein_id": "XP_016874017.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 387,
"cds_start": 100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018528.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "XM_047427845.1",
"protein_id": "XP_047283801.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 294,
"cds_start": 142,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427845.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Arg34Ser",
"transcript": "XM_011520456.3",
"protein_id": "XP_011518758.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 280,
"cds_start": 100,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520456.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.117C>A",
"hgvs_p": null,
"transcript": "ENST00000424556.2",
"protein_id": "ENSP00000405850.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424556.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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{
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],
"gene_symbol": "SYT8",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.457,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290332.2",
"gene_symbol": "SYT8",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg49Ser"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}