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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: 7-139417668-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139417668&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139417668,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001244584.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys",
"transcript": "NM_016019.5",
"protein_id": "NP_057103.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 392,
"cds_start": 940,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354926.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016019.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys",
"transcript": "ENST00000354926.9",
"protein_id": "ENSP00000347005.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 392,
"cds_start": 940,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016019.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354926.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMC1-LUC7L2",
"gene_hgnc_id": 44671,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Cys",
"transcript": "ENST00000541515.3",
"protein_id": "ENSP00000440222.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 458,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541515.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"transcript": "ENST00000619796.4",
"protein_id": "ENSP00000483438.1",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 391,
"cds_start": 937,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619796.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "n.*759C>T",
"hgvs_p": null,
"transcript": "ENST00000456182.5",
"protein_id": "ENSP00000393012.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "n.*759C>T",
"hgvs_p": null,
"transcript": "ENST00000456182.5",
"protein_id": "ENSP00000393012.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456182.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1162C>T",
"hgvs_p": "p.Arg388Cys",
"transcript": "ENST00000867366.1",
"protein_id": "ENSP00000537425.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 466,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867366.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMC1-LUC7L2",
"gene_hgnc_id": 44671,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Cys",
"transcript": "NM_001244584.3",
"protein_id": "NP_001231513.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 458,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244584.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "ENST00000947909.1",
"protein_id": "ENSP00000617968.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 447,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947909.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.961C>T",
"hgvs_p": "p.Arg321Cys",
"transcript": "ENST00000947908.1",
"protein_id": "ENSP00000617967.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 399,
"cds_start": 961,
"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": "ENST00000947908.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys",
"transcript": "ENST00000867360.1",
"protein_id": "ENSP00000537419.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 392,
"cds_start": 940,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867360.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"transcript": "NM_001270643.2",
"protein_id": "NP_001257572.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 391,
"cds_start": 937,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270643.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"transcript": "ENST00000933629.1",
"protein_id": "ENSP00000603688.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 391,
"cds_start": 937,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933629.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Cys",
"transcript": "ENST00000867362.1",
"protein_id": "ENSP00000537421.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 390,
"cds_start": 934,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867362.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "NM_001244585.2",
"protein_id": "NP_001231514.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 389,
"cds_start": 931,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244585.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "ENST00000263545.7",
"protein_id": "ENSP00000263545.7",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 389,
"cds_start": 931,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263545.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "ENST00000541170.7",
"protein_id": "ENSP00000441604.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 389,
"cds_start": 931,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541170.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Cys",
"transcript": "ENST00000867367.1",
"protein_id": "ENSP00000537426.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 388,
"cds_start": 928,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867367.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Cys",
"transcript": "ENST00000867365.1",
"protein_id": "ENSP00000537424.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 382,
"cds_start": 910,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867365.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000867363.1",
"protein_id": "ENSP00000537422.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 359,
"cds_start": 841,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867363.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"transcript": "ENST00000947910.1",
"protein_id": "ENSP00000617969.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 619,
"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": "ENST00000947910.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.911+29C>T",
"hgvs_p": null,
"transcript": "ENST00000867364.1",
"protein_id": "ENSP00000537423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
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{
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{
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{
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"strand": 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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"gene_symbol": "LOC100129148",
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],
"gene_symbol": "FMC1-LUC7L2",
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"dbsnp": "rs745657286",
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23534062504768372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.1945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.502,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001244584.3",
"gene_symbol": "FMC1-LUC7L2",
"hgnc_id": 44671,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Cys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016019.5",
"gene_symbol": "LUC7L2",
"hgnc_id": 21608,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_033999.1",
"gene_symbol": "LOC100129148",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.255G>A",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000847755.1",
"gene_symbol": "ENSG00000310166",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.525G>A",
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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
}