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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: 11-110247798-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=110247798&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 110247798,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440509.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_002906.4",
"protein_id": "NP_002897.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 583,
"cds_start": 995,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645495.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002906.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "ENST00000645495.2",
"protein_id": "ENSP00000496503.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 583,
"cds_start": 995,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002906.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645495.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "ENST00000528498.5",
"protein_id": "ENSP00000432112.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528498.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.-47T>C",
"hgvs_p": null,
"transcript": "ENST00000528900.5",
"protein_id": "ENSP00000433580.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528900.5"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.404+10359T>C",
"hgvs_p": null,
"transcript": "ENST00000530301.5",
"protein_id": "ENSP00000436277.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530301.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001440509.1",
"protein_id": "NP_001427438.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 645,
"cds_start": 995,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440509.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001260492.2",
"protein_id": "NP_001247421.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260492.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001260493.2",
"protein_id": "NP_001247422.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260493.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001440505.1",
"protein_id": "NP_001427434.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440505.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001440506.1",
"protein_id": "NP_001427435.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440506.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "ENST00000647231.1",
"protein_id": "ENSP00000496414.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 995,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647231.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "NM_001440510.1",
"protein_id": "NP_001427439.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 593,
"cds_start": 962,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440510.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "NM_001440511.1",
"protein_id": "NP_001427440.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 593,
"cds_start": 962,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440511.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1016T>C",
"hgvs_p": "p.Ile339Thr",
"transcript": "NM_001440512.1",
"protein_id": "NP_001427441.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 590,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440512.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001440507.1",
"protein_id": "NP_001427436.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 583,
"cds_start": 995,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440507.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "NM_001440508.1",
"protein_id": "NP_001427437.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 583,
"cds_start": 995,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440508.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "ENST00000914232.1",
"protein_id": "ENSP00000584291.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 583,
"cds_start": 995,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914232.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "NM_001440513.1",
"protein_id": "NP_001427442.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 572,
"cds_start": 962,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440513.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "NM_001440514.1",
"protein_id": "NP_001427443.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 572,
"cds_start": 962,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440514.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "NM_001440515.1",
"protein_id": "NP_001427444.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 572,
"cds_start": 962,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440515.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Ile304Thr",
"transcript": "NM_001440516.1",
"protein_id": "NP_001427445.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 555,
"cds_start": 911,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440516.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.899T>C",
"hgvs_p": "p.Ile300Thr",
"transcript": "NM_001440517.1",
"protein_id": "NP_001427446.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 551,
"cds_start": 899,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440517.1"
},
{
"aa_ref": "I",
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{
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{
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{
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{
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{
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"protein_coding": false,
"strand": false,
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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": "RDX",
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"transcript": "ENST00000646663.1",
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{
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"3_prime_UTR_variant"
],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530131.5"
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],
"gene_symbol": "RDX",
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"dbsnp": "rs533107164",
"frequency_reference_population": 0.00010435526,
"hom_count_reference_population": 1,
"allele_count_reference_population": 166,
"gnomad_exomes_af": 0.000111902,
"gnomad_genomes_af": 0.0000329021,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020410865545272827,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.91,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001440509.1",
"gene_symbol": "RDX",
"hgnc_id": 9944,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}