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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-134415042-CACA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134415042&ref=CACA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134415042,
"ref": "CACA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_032458.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "NM_001015877.2",
"protein_id": "NP_001015877.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370803.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015877.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000370803.8",
"protein_id": "ENSP00000359839.4",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001015877.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370803.8"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000332070.7",
"protein_id": "ENSP00000329097.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332070.7"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000370799.5",
"protein_id": "ENSP00000359835.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 324,
"cds_start": 766,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370799.5"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000370800.4",
"protein_id": "ENSP00000359836.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 312,
"cds_start": 766,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370800.4"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000625464.2",
"protein_id": "ENSP00000487420.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 366,
"cds_start": 766,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625464.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000908869.1",
"protein_id": "ENSP00000578928.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 366,
"cds_start": 766,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908869.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000934664.1",
"protein_id": "ENSP00000604723.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 366,
"cds_start": 766,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934664.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000934666.1",
"protein_id": "ENSP00000604725.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 366,
"cds_start": 766,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934666.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "ENST00000956398.1",
"protein_id": "ENSP00000626457.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 366,
"cds_start": 766,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956398.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "NM_032458.3",
"protein_id": "NP_115834.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032458.3"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000691812.1",
"protein_id": "ENSP00000510211.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691812.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000908871.1",
"protein_id": "ENSP00000578930.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908871.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000908872.1",
"protein_id": "ENSP00000578931.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908872.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000934665.1",
"protein_id": "ENSP00000604724.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934665.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del",
"transcript": "ENST00000956399.1",
"protein_id": "ENSP00000626458.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 365,
"cds_start": 763,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956399.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.664_666delACA",
"hgvs_p": "p.Thr222del",
"transcript": "ENST00000908870.1",
"protein_id": "ENSP00000578929.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908870.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.664_666delACA",
"hgvs_p": "p.Thr222del",
"transcript": "ENST00000934663.1",
"protein_id": "ENSP00000604722.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934663.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.661_663delACA",
"hgvs_p": "p.Thr221del",
"transcript": "ENST00000687496.1",
"protein_id": "ENSP00000509551.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 331,
"cds_start": 661,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687496.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.661_663delACA",
"hgvs_p": "p.Thr221del",
"transcript": "ENST00000688598.1",
"protein_id": "ENSP00000510410.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 331,
"cds_start": 661,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688598.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "c.766_768delACA",
"hgvs_p": "p.Thr256del",
"transcript": "NM_032335.3",
"protein_id": "NP_115711.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 312,
"cds_start": 766,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032335.3"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "n.*682_*684delACA",
"hgvs_p": null,
"transcript": "ENST00000685553.1",
"protein_id": "ENSP00000510193.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000685553.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "n.*375_*377delACA",
"hgvs_p": null,
"transcript": "ENST00000693759.1",
"protein_id": "ENSP00000509518.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000693759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "n.*682_*684delACA",
"hgvs_p": null,
"transcript": "ENST00000685553.1",
"protein_id": "ENSP00000510193.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000685553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"hgvs_c": "n.*375_*377delACA",
"hgvs_p": null,
"transcript": "ENST00000693759.1",
"protein_id": "ENSP00000509518.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000693759.1"
}
],
"gene_symbol": "PHF6",
"gene_hgnc_id": 18145,
"dbsnp": "rs1556019105",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.867,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032458.3",
"gene_symbol": "PHF6",
"hgnc_id": 18145,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.763_765delACA",
"hgvs_p": "p.Thr255del"
}
],
"clinvar_disease": "Borjeson-Forssman-Lehmann syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Borjeson-Forssman-Lehmann syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}