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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: 1-198706934-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=198706934&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 198706934,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002838.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.886A>C",
"hgvs_p": "p.Ile296Leu",
"transcript": "NM_002838.5",
"protein_id": "NP_002829.3",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1306,
"cds_start": 886,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000442510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002838.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.886A>C",
"hgvs_p": "p.Ile296Leu",
"transcript": "ENST00000442510.8",
"protein_id": "ENSP00000411355.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 1306,
"cds_start": 886,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002838.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442510.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000348564.12",
"protein_id": "ENSP00000306782.7",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348564.12"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.544A>C",
"hgvs_p": "p.Ile182Leu",
"transcript": "ENST00000530727.5",
"protein_id": "ENSP00000433536.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 599,
"cds_start": 544,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530727.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "n.742A>C",
"hgvs_p": null,
"transcript": "ENST00000529828.5",
"protein_id": "ENSP00000469141.1",
"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": "non_stop_decay",
"feature": "ENST00000529828.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.601A>C",
"hgvs_p": "p.Ile201Leu",
"transcript": "ENST00000697631.1",
"protein_id": "ENSP00000513363.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1211,
"cds_start": 601,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697631.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.544A>C",
"hgvs_p": "p.Ile182Leu",
"transcript": "ENST00000970625.1",
"protein_id": "ENSP00000640684.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1146,
"cds_start": 544,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970625.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "NM_080921.4",
"protein_id": "NP_563578.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080921.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000908298.1",
"protein_id": "ENSP00000578357.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908298.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000970623.1",
"protein_id": "ENSP00000640682.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970623.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000970624.1",
"protein_id": "ENSP00000640683.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970624.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000970626.1",
"protein_id": "ENSP00000640685.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970626.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000908299.1",
"protein_id": "ENSP00000578358.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1099,
"cds_start": 403,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908299.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.688A>C",
"hgvs_p": "p.Ile230Leu",
"transcript": "ENST00000367367.8",
"protein_id": "ENSP00000356337.5",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 734,
"cds_start": 688,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367367.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "ENST00000367379.6",
"protein_id": "ENSP00000356349.2",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 147,
"cds_start": 403,
"cds_end": null,
"cds_length": 446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367379.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.886A>C",
"hgvs_p": "p.Ile296Leu",
"transcript": "XM_047426381.1",
"protein_id": "XP_047282337.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1306,
"cds_start": 886,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426381.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ile248Leu",
"transcript": "XM_006711472.5",
"protein_id": "XP_006711535.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 1258,
"cds_start": 742,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711472.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.688A>C",
"hgvs_p": "p.Ile230Leu",
"transcript": "XM_006711473.4",
"protein_id": "XP_006711536.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1240,
"cds_start": 688,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711473.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.688A>C",
"hgvs_p": "p.Ile230Leu",
"transcript": "XM_047426398.1",
"protein_id": "XP_047282354.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1240,
"cds_start": 688,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426398.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.544A>C",
"hgvs_p": "p.Ile182Leu",
"transcript": "XM_006711474.4",
"protein_id": "XP_006711537.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1192,
"cds_start": 544,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711474.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.544A>C",
"hgvs_p": "p.Ile182Leu",
"transcript": "XM_047426409.1",
"protein_id": "XP_047282365.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1192,
"cds_start": 544,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426409.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.403A>C",
"hgvs_p": "p.Ile135Leu",
"transcript": "XM_047426415.1",
"protein_id": "XP_047282371.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 403,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "XM_047426415.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 29,
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"gene_symbol": "PTPRC",
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"transcript": "ENST00000697632.1",
"protein_id": "ENSP00000513364.1",
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"aa_length": 960,
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "n.1588A>C",
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"transcript": "ENST00000697630.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697630.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"hgvs_c": "c.*59A>C",
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"transcript": "ENST00000643513.1",
"protein_id": "ENSP00000494132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643513.1"
}
],
"gene_symbol": "PTPRC",
"gene_hgnc_id": 9666,
"dbsnp": "rs2230606",
"frequency_reference_population": 0.017479029,
"hom_count_reference_population": 359,
"allele_count_reference_population": 28030,
"gnomad_exomes_af": 0.0175785,
"gnomad_genomes_af": 0.0165312,
"gnomad_exomes_ac": 25512,
"gnomad_genomes_ac": 2518,
"gnomad_exomes_homalt": 326,
"gnomad_genomes_homalt": 33,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002391248941421509,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.265,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002838.5",
"gene_symbol": "PTPRC",
"hgnc_id": 9666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.886A>C",
"hgvs_p": "p.Ile296Leu"
}
],
"clinvar_disease": "Immunodeficiency 104,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Immunodeficiency 104|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}