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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: X-48688919-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48688919&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48688919,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001438877.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "NM_000377.3",
"protein_id": "NP_000368.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": "ENST00000376701.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000377.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000376701.5",
"protein_id": "ENSP00000365891.4",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": "NM_000377.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376701.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "NM_001438877.1",
"protein_id": "NP_001425806.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 590,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438877.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000698635.1",
"protein_id": "ENSP00000513850.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 590,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698635.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Pro345Pro",
"transcript": "NM_001438878.1",
"protein_id": "NP_001425807.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 538,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438878.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000698626.1",
"protein_id": "ENSP00000513845.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 532,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698626.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "NM_001438879.1",
"protein_id": "NP_001425808.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438879.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000698625.1",
"protein_id": "ENSP00000513844.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698625.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906191.1",
"protein_id": "ENSP00000576250.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906191.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906192.1",
"protein_id": "ENSP00000576251.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906192.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906193.1",
"protein_id": "ENSP00000576252.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906193.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906194.1",
"protein_id": "ENSP00000576253.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906194.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906195.1",
"protein_id": "ENSP00000576254.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906195.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906196.1",
"protein_id": "ENSP00000576255.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906196.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "ENST00000906197.1",
"protein_id": "ENSP00000576256.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 502,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906197.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1104G>C",
"hgvs_p": "p.Pro368Pro",
"transcript": "ENST00000906200.1",
"protein_id": "ENSP00000576259.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 473,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906200.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Pro350Pro",
"transcript": "ENST00000906199.1",
"protein_id": "ENSP00000576258.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906199.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Pro345Pro",
"transcript": "NM_001438876.1",
"protein_id": "NP_001425805.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 450,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438876.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Pro345Pro",
"transcript": "ENST00000906198.1",
"protein_id": "ENSP00000576257.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 450,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906198.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "XM_017029786.2",
"protein_id": "XP_016885275.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 590,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029786.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro",
"transcript": "XM_047442432.1",
"protein_id": "XP_047298388.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 590,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442432.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Pro345Pro",
"transcript": "XM_047442433.1",
"protein_id": "XP_047298389.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 538,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442433.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Pro345Pro",
"transcript": "XM_011543977.3",
"protein_id": "XP_011542279.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 450,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543977.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000474174.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474174.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232828",
"gene_hgnc_id": null,
"hgvs_c": "n.821+10105C>G",
"hgvs_p": null,
"transcript": "ENST00000746890.1",
"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": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000746890.1"
},
{
"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": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "n.-101G>C",
"hgvs_p": null,
"transcript": "ENST00000470107.1",
"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": 322,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470107.1"
}
],
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"dbsnp": "rs782486251",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.657,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001438877.1",
"gene_symbol": "WAS",
"hgnc_id": 12731,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Pro397Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000746890.1",
"gene_symbol": "ENSG00000232828",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.821+10105C>G",
"hgvs_p": null
}
],
"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
}