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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: 12-13087958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=13087958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 13087958,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001367363.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Ala195Thr",
"transcript": "NM_001080555.4",
"protein_id": "NP_001074024.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 362,
"cds_start": 583,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651961.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080555.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Ala195Thr",
"transcript": "ENST00000651961.1",
"protein_id": "ENSP00000498528.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 362,
"cds_start": 583,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080555.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651961.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Ala172Thr",
"transcript": "ENST00000432710.7",
"protein_id": "ENSP00000405032.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 339,
"cds_start": 514,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432710.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "ENST00000337630.10",
"protein_id": "ENSP00000336816.6",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 326,
"cds_start": 475,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337630.10"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr",
"transcript": "ENST00000351606.10",
"protein_id": "ENSP00000336857.6",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 321,
"cds_start": 707,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351606.10"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Cys200Tyr",
"transcript": "ENST00000396302.7",
"protein_id": "ENSP00000379596.3",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 285,
"cds_start": 599,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396302.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAM234B",
"gene_hgnc_id": 29288,
"hgvs_c": "c.970+11815C>T",
"hgvs_p": null,
"transcript": "ENST00000537625.1",
"protein_id": "ENSP00000437974.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.443-695G>A",
"hgvs_p": null,
"transcript": "ENST00000537302.5",
"protein_id": "ENSP00000441718.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537302.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Ala235Thr",
"transcript": "NM_001367363.2",
"protein_id": "NP_001354292.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 402,
"cds_start": 703,
"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_001367363.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Ala219Thr",
"transcript": "NM_001367359.2",
"protein_id": "NP_001354288.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 386,
"cds_start": 655,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367359.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Ala195Thr",
"transcript": "NM_001367362.2",
"protein_id": "NP_001354291.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 371,
"cds_start": 583,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367362.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr",
"transcript": "NM_001367358.2",
"protein_id": "NP_001354287.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 354,
"cds_start": 707,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367358.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"transcript": "NM_001368007.2",
"protein_id": "NP_001354936.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 349,
"cds_start": 544,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368007.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Cys260Tyr",
"transcript": "NM_001367361.2",
"protein_id": "NP_001354290.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 345,
"cds_start": 779,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367361.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Ala172Thr",
"transcript": "NM_001206842.3",
"protein_id": "NP_001193771.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 339,
"cds_start": 514,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206842.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "NM_153823.5",
"protein_id": "NP_722545.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 326,
"cds_start": 475,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153823.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr",
"transcript": "NM_001080554.4",
"protein_id": "NP_001074023.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 321,
"cds_start": 707,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080554.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Cys213Tyr",
"transcript": "NM_001367364.2",
"protein_id": "NP_001354293.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 298,
"cds_start": 638,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367364.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Cys213Tyr",
"transcript": "ENST00000545401.6",
"protein_id": "ENSP00000445884.2",
"transcript_support_level": 3,
"aa_start": 213,
"aa_end": null,
"aa_length": 298,
"cds_start": 638,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545401.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Cys200Tyr",
"transcript": "NM_031289.5",
"protein_id": "NP_112579.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 285,
"cds_start": 599,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031289.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Ala219Thr",
"transcript": "ENST00000542415.5",
"protein_id": "ENSP00000439676.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 219,
"cds_start": 655,
"cds_end": null,
"cds_length": 661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542415.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Ala219Thr",
"transcript": "XM_011520858.2",
"protein_id": "XP_011519160.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 395,
"cds_start": 655,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520858.2"
},
{
"aa_ref": "C",
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"protein_coding": true,
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{
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{
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{
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"feature": "XM_011520863.3"
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{
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],
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{
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],
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"feature": "NM_001206845.3"
},
{
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],
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"gene_symbol": "GSG1",
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"transcript": "ENST00000457134.6",
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"biotype": "protein_coding",
"feature": "ENST00000457134.6"
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "GSG1",
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"hgvs_c": "c.606-695G>A",
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"transcript": "NM_001367360.2",
"protein_id": "NP_001354289.1",
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"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "NM_001367360.2"
}
],
"gene_symbol": "GSG1",
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"dbsnp": "rs1401302360",
"frequency_reference_population": 0.0000012390867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21571549773216248,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.346,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367363.2",
"gene_symbol": "GSG1",
"hgnc_id": 19716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Ala235Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000537625.1",
"gene_symbol": "FAM234B",
"hgnc_id": 29288,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.970+11815C>T",
"hgvs_p": null
}
],
"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
}