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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: 5-150115809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150115809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150115809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002609.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "NM_002609.4",
"protein_id": "NP_002600.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261799.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002609.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000261799.9",
"protein_id": "ENSP00000261799.4",
"transcript_support_level": 1,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002609.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261799.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "n.*2589C>T",
"hgvs_p": null,
"transcript": "ENST00000520579.5",
"protein_id": "ENSP00000430026.1",
"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": "ENST00000520579.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "n.*2589C>T",
"hgvs_p": null,
"transcript": "ENST00000520579.5",
"protein_id": "ENSP00000430026.1",
"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": "ENST00000520579.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3377C>T",
"hgvs_p": "p.Ser1126Leu",
"transcript": "ENST00000890716.1",
"protein_id": "ENSP00000560775.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890716.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3356C>T",
"hgvs_p": "p.Ser1119Leu",
"transcript": "ENST00000890721.1",
"protein_id": "ENSP00000560780.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3356,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890721.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3332C>T",
"hgvs_p": "p.Ser1111Leu",
"transcript": "ENST00000890727.1",
"protein_id": "ENSP00000560786.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3332,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890727.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890715.1",
"protein_id": "ENSP00000560774.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890715.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890717.1",
"protein_id": "ENSP00000560776.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890717.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890718.1",
"protein_id": "ENSP00000560777.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890718.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890723.1",
"protein_id": "ENSP00000560782.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890723.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890724.1",
"protein_id": "ENSP00000560783.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890724.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890725.1",
"protein_id": "ENSP00000560784.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890725.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000890726.1",
"protein_id": "ENSP00000560785.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890726.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000951660.1",
"protein_id": "ENSP00000621719.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951660.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu",
"transcript": "ENST00000951664.1",
"protein_id": "ENSP00000621723.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951664.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"transcript": "ENST00000890720.1",
"protein_id": "ENSP00000560779.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890720.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"transcript": "ENST00000951663.1",
"protein_id": "ENSP00000621722.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951663.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Ser1086Leu",
"transcript": "ENST00000951661.1",
"protein_id": "ENSP00000621720.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951661.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3185C>T",
"hgvs_p": "p.Ser1062Leu",
"transcript": "ENST00000951662.1",
"protein_id": "ENSP00000621721.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951662.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3116C>T",
"hgvs_p": "p.Ser1039Leu",
"transcript": "ENST00000890719.1",
"protein_id": "ENSP00000560778.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890719.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.3083C>T",
"hgvs_p": "p.Ser1028Leu",
"transcript": "NM_001355016.2",
"protein_id": "NP_001341945.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3083,
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"cds_length": 3129,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355016.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.2966C>T",
"hgvs_p": "p.Ser989Leu",
"transcript": "ENST00000890722.1",
"protein_id": "ENSP00000560781.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890722.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.2792C>T",
"hgvs_p": "p.Ser931Leu",
"transcript": "NM_001355017.2",
"protein_id": "NP_001341946.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 945,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355017.2"
}
],
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"dbsnp": "rs146614144",
"frequency_reference_population": 0.00001550555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000102732,
"gnomad_genomes_af": 0.0000656987,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09028825163841248,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.075,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.734,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002609.4",
"gene_symbol": "PDGFRB",
"hgnc_id": 8804,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3275C>T",
"hgvs_p": "p.Ser1092Leu"
}
],
"clinvar_disease": " 4, idiopathic,Acroosteolysis-keloid-like lesions-premature aging syndrome,Basal ganglia calcification,Inborn genetic diseases,Infantile myofibromatosis,Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}