← Back to variant description
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: 5-150125549-ACCTTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150125549&ref=ACCTTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150125549,
"ref": "ACCTTCC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_002609.4",
"consequences": [
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "NM_002609.4",
"protein_id": "NP_002600.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": "ENST00000261799.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002609.4"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000261799.9",
"protein_id": "ENSP00000261799.4",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 5700,
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "n.*1011_*1016delGGAAGG",
"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": 3860,
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "n.*1011_*1016delGGAAGG",
"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": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520579.5"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890716.1",
"protein_id": "ENSP00000560775.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890716.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1778_1783delGGAAGG",
"hgvs_p": "p.Trp593_Val595delinsLeu",
"transcript": "ENST00000890721.1",
"protein_id": "ENSP00000560780.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1133,
"cds_start": 1778,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 5766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890721.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1754_1759delGGAAGG",
"hgvs_p": "p.Trp585_Val587delinsLeu",
"transcript": "ENST00000890727.1",
"protein_id": "ENSP00000560786.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890727.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890715.1",
"protein_id": "ENSP00000560774.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890715.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890717.1",
"protein_id": "ENSP00000560776.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 5850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890717.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890718.1",
"protein_id": "ENSP00000560777.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890718.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890723.1",
"protein_id": "ENSP00000560782.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890723.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890724.1",
"protein_id": "ENSP00000560783.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890724.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890725.1",
"protein_id": "ENSP00000560784.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890725.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000890726.1",
"protein_id": "ENSP00000560785.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890726.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000951660.1",
"protein_id": "ENSP00000621719.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951660.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000951664.1",
"protein_id": "ENSP00000621723.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951664.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1694_1699delGGAAGG",
"hgvs_p": "p.Trp565_Val567delinsLeu",
"transcript": "ENST00000890720.1",
"protein_id": "ENSP00000560779.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890720.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1694_1699delGGAAGG",
"hgvs_p": "p.Trp565_Val567delinsLeu",
"transcript": "ENST00000951663.1",
"protein_id": "ENSP00000621722.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951663.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu",
"transcript": "ENST00000951661.1",
"protein_id": "ENSP00000621720.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951661.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1607_1612delGGAAGG",
"hgvs_p": "p.Trp536_Val538delinsLeu",
"transcript": "ENST00000951662.1",
"protein_id": "ENSP00000621721.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1607,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951662.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1538_1543delGGAAGG",
"hgvs_p": "p.Trp513_Val515delinsLeu",
"transcript": "ENST00000890719.1",
"protein_id": "ENSP00000560778.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1053,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890719.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1505_1510delGGAAGG",
"hgvs_p": "p.Trp502_Val504delinsLeu",
"transcript": "NM_001355016.2",
"protein_id": "NP_001341945.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1505,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355016.2"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1388_1393delGGAAGG",
"hgvs_p": "p.Trp463_Val465delinsLeu",
"transcript": "ENST00000890722.1",
"protein_id": "ENSP00000560781.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1388,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890722.1"
},
{
"aa_ref": "WKV",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "c.1214_1219delGGAAGG",
"hgvs_p": "p.Trp405_Val407delinsLeu",
"transcript": "NM_001355017.2",
"protein_id": "NP_001341946.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 945,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355017.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"hgvs_c": "n.-35_-30delGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000520229.1",
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000520229.1"
}
],
"gene_symbol": "PDGFRB",
"gene_hgnc_id": 8804,
"dbsnp": "rs1060499543",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM4",
"PP3",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_002609.4",
"gene_symbol": "PDGFRB",
"hgnc_id": 8804,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1697_1702delGGAAGG",
"hgvs_p": "p.Trp566_Val568delinsLeu"
}
],
"clinvar_disease": "Infantile myofibromatosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Infantile myofibromatosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}