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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: 12-13087937-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=13087937&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 13087937,
"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.604G>A",
"hgvs_p": "p.Ala202Thr",
"transcript": "NM_001080555.4",
"protein_id": "NP_001074024.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 362,
"cds_start": 604,
"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.604G>A",
"hgvs_p": "p.Ala202Thr",
"transcript": "ENST00000651961.1",
"protein_id": "ENSP00000498528.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 362,
"cds_start": 604,
"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.535G>A",
"hgvs_p": "p.Ala179Thr",
"transcript": "ENST00000432710.7",
"protein_id": "ENSP00000405032.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 339,
"cds_start": 535,
"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.496G>A",
"hgvs_p": "p.Ala166Thr",
"transcript": "ENST00000337630.10",
"protein_id": "ENSP00000336816.6",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 326,
"cds_start": 496,
"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": "R",
"aa_alt": "H",
"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.728G>A",
"hgvs_p": "p.Arg243His",
"transcript": "ENST00000351606.10",
"protein_id": "ENSP00000336857.6",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 321,
"cds_start": 728,
"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": "R",
"aa_alt": "H",
"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.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000396302.7",
"protein_id": "ENSP00000379596.3",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 620,
"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+11794C>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.443-674G>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.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001367363.2",
"protein_id": "NP_001354292.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 402,
"cds_start": 724,
"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.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "NM_001367359.2",
"protein_id": "NP_001354288.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 386,
"cds_start": 676,
"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.604G>A",
"hgvs_p": "p.Ala202Thr",
"transcript": "NM_001367362.2",
"protein_id": "NP_001354291.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 371,
"cds_start": 604,
"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": "R",
"aa_alt": "H",
"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.728G>A",
"hgvs_p": "p.Arg243His",
"transcript": "NM_001367358.2",
"protein_id": "NP_001354287.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 354,
"cds_start": 728,
"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.565G>A",
"hgvs_p": "p.Ala189Thr",
"transcript": "NM_001368007.2",
"protein_id": "NP_001354936.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 349,
"cds_start": 565,
"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": "R",
"aa_alt": "H",
"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.800G>A",
"hgvs_p": "p.Arg267His",
"transcript": "NM_001367361.2",
"protein_id": "NP_001354290.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 345,
"cds_start": 800,
"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.535G>A",
"hgvs_p": "p.Ala179Thr",
"transcript": "NM_001206842.3",
"protein_id": "NP_001193771.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 339,
"cds_start": 535,
"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.496G>A",
"hgvs_p": "p.Ala166Thr",
"transcript": "NM_153823.5",
"protein_id": "NP_722545.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 326,
"cds_start": 496,
"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": "R",
"aa_alt": "H",
"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.728G>A",
"hgvs_p": "p.Arg243His",
"transcript": "NM_001080554.4",
"protein_id": "NP_001074023.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 321,
"cds_start": 728,
"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": "R",
"aa_alt": "H",
"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.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "NM_001367364.2",
"protein_id": "NP_001354293.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 298,
"cds_start": 659,
"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": "R",
"aa_alt": "H",
"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.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "ENST00000545401.6",
"protein_id": "ENSP00000445884.2",
"transcript_support_level": 3,
"aa_start": 220,
"aa_end": null,
"aa_length": 298,
"cds_start": 659,
"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": "R",
"aa_alt": "H",
"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.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "NM_031289.5",
"protein_id": "NP_112579.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 620,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1",
"gene_hgnc_id": 19716,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "XM_011520858.2",
"protein_id": "XP_011519160.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 395,
"cds_start": 676,
"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": "R",
"aa_alt": "H",
"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.800G>A",
"hgvs_p": "p.Arg267His",
"transcript": "XM_011520860.2",
"protein_id": "XP_011519162.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 354,
"cds_start": 800,
"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": "XM_011520860.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
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{
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{
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},
{
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],
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{
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{
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},
{
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],
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"feature": "NM_001367360.2"
},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "GSG1",
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"hgvs_c": "c.*15G>A",
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"transcript": "ENST00000542415.5",
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"biotype": "protein_coding",
"feature": "ENST00000542415.5"
}
],
"gene_symbol": "GSG1",
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"dbsnp": "rs768853667",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000177861,
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24770376086235046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1469,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.492,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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.724G>A",
"hgvs_p": "p.Ala242Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000537625.1",
"gene_symbol": "FAM234B",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.970+11794C>T",
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}
],
"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
}