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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: 13-37009283-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37009283&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37009283,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181503.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Ser272Thr",
"transcript": "NM_181503.3",
"protein_id": "NP_852480.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 276,
"cds_start": 815,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389704.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181503.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Ser272Thr",
"transcript": "ENST00000389704.4",
"protein_id": "ENSP00000374354.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 276,
"cds_start": 815,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181503.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389704.4"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2305G>C",
"hgvs_p": null,
"transcript": "ENST00000490537.6",
"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": "ENST00000490537.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.338G>C",
"hgvs_p": "p.Ser113Thr",
"transcript": "ENST00000932950.1",
"protein_id": "ENSP00000603009.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 117,
"cds_start": 338,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932950.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.194G>C",
"hgvs_p": "p.Ser65Thr",
"transcript": "ENST00000481013.1",
"protein_id": "ENSP00000419203.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 69,
"cds_start": 194,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481013.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000685624.1",
"protein_id": "ENSP00000510384.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685624.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000687482.1",
"protein_id": "ENSP00000510481.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687482.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000687944.1",
"protein_id": "ENSP00000509727.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687944.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000688064.1",
"protein_id": "ENSP00000510279.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688064.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000688436.1",
"protein_id": "ENSP00000508444.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688436.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000689948.1",
"protein_id": "ENSP00000509508.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689948.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000691611.1",
"protein_id": "ENSP00000508696.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691611.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000692143.1",
"protein_id": "ENSP00000510649.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692143.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000692588.1",
"protein_id": "ENSP00000509760.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692588.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000692636.1",
"protein_id": "ENSP00000509306.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692636.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Ser47Thr",
"transcript": "ENST00000693100.1",
"protein_id": "ENSP00000509449.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.*422G>C",
"hgvs_p": null,
"transcript": "ENST00000686729.1",
"protein_id": "ENSP00000509000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2305G>C",
"hgvs_p": null,
"transcript": "ENST00000464235.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000464235.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2241G>C",
"hgvs_p": null,
"transcript": "ENST00000488779.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000488779.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.3979G>C",
"hgvs_p": null,
"transcript": "ENST00000684866.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000684866.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.3320G>C",
"hgvs_p": null,
"transcript": "ENST00000685563.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000685563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.4058G>C",
"hgvs_p": null,
"transcript": "ENST00000685643.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000685643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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"biotype": "retained_intron",
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{
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"protein_coding": false,
"strand": true,
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"transcript": "ENST00000473871.1",
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{
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"gene_symbol": "SUPT20H",
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"transcript": "ENST00000490716.5",
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"biotype": "nonsense_mediated_decay",
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{
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"transcript": "ENST00000495071.6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495071.6"
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],
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"dbsnp": "rs36027220",
"frequency_reference_population": 0.0055821533,
"hom_count_reference_population": 37,
"allele_count_reference_population": 8908,
"gnomad_exomes_af": 0.00575607,
"gnomad_genomes_af": 0.00393354,
"gnomad_exomes_ac": 8309,
"gnomad_genomes_ac": 599,
"gnomad_exomes_homalt": 36,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005367755889892578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.681,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.08,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.016,
"phylop100way_prediction": "Pathogenic",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_181503.3",
"gene_symbol": "EXOSC8",
"hgnc_id": 17035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Ser272Thr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001278480.2",
"gene_symbol": "SUPT20H",
"hgnc_id": 20596,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*426C>G",
"hgvs_p": null
}
],
"clinvar_disease": " type 1C,Pontocerebellar hypoplasia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2 LB:4 O:1",
"phenotype_combined": "Pontocerebellar hypoplasia, type 1C|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}