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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: 17-48184809-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48184809&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48184809,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003726.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "NM_003726.4",
"protein_id": "NP_003717.3",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 359,
"cds_start": 481,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336915.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003726.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000336915.11",
"protein_id": "ENSP00000338171.6",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 359,
"cds_start": 481,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003726.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336915.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000970118.1",
"protein_id": "ENSP00000640177.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 376,
"cds_start": 481,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970118.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000584924.5",
"protein_id": "ENSP00000464311.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 359,
"cds_start": 481,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584924.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000852284.1",
"protein_id": "ENSP00000522343.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 359,
"cds_start": 481,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852284.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "NM_001075099.2",
"protein_id": "NP_001068567.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 358,
"cds_start": 481,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001075099.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000852283.1",
"protein_id": "ENSP00000522342.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 342,
"cds_start": 481,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852283.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000852282.1",
"protein_id": "ENSP00000522341.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 341,
"cds_start": 481,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852282.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_047436972.1",
"protein_id": "XP_047292928.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 361,
"cds_start": 481,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436972.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_047436973.1",
"protein_id": "XP_047292929.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 360,
"cds_start": 481,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436973.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Gly145Arg",
"transcript": "XM_047436974.1",
"protein_id": "XP_047292930.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 345,
"cds_start": 433,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436974.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_047436975.1",
"protein_id": "XP_047292931.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 343,
"cds_start": 481,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436975.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_047436976.1",
"protein_id": "XP_047292932.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 343,
"cds_start": 427,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436976.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_005257755.5",
"protein_id": "XP_005257812.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 341,
"cds_start": 481,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257755.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_047436977.1",
"protein_id": "XP_047292933.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 327,
"cds_start": 481,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436977.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Gly72Arg",
"transcript": "XM_047436978.1",
"protein_id": "XP_047292934.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 272,
"cds_start": 214,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436978.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Gly72Arg",
"transcript": "XM_047436979.1",
"protein_id": "XP_047292935.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 271,
"cds_start": 214,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436979.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Gly72Arg",
"transcript": "XM_017025258.2",
"protein_id": "XP_016880747.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 270,
"cds_start": 214,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025258.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.199G>C",
"hgvs_p": "p.Gly67Arg",
"transcript": "XM_047436980.1",
"protein_id": "XP_047292936.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 267,
"cds_start": 199,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.-9G>C",
"hgvs_p": null,
"transcript": "ENST00000579336.1",
"protein_id": "ENSP00000464198.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "c.442+3034G>C",
"hgvs_p": null,
"transcript": "ENST00000852281.1",
"protein_id": "ENSP00000522340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKAP1",
"gene_hgnc_id": 15605,
"hgvs_c": "n.*288G>C",
"hgvs_p": null,
"transcript": "ENST00000581419.1",
"protein_id": "ENSP00000462437.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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{
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"3_prime_UTR_variant"
],
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{
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"3_prime_UTR_variant"
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"gene_symbol": "SKAP1",
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{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "SKAP1",
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"hgvs_c": "n.263-2352G>C",
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"transcript": "ENST00000581400.2",
"protein_id": "ENSP00000462360.1",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "SKAP1",
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"dbsnp": "rs2278868",
"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": 0.1629422903060913,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.1159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.311,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003726.4",
"gene_symbol": "SKAP1",
"hgnc_id": 15605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}