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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: 16-12052014-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=12052014&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 12052014,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032167.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "NM_032167.5",
"protein_id": "NP_115543.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 813,
"cds_start": 916,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": "ENST00000566228.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "ENST00000566228.6",
"protein_id": "ENSP00000456480.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 813,
"cds_start": 916,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": "NM_032167.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "NM_001376490.1",
"protein_id": "NP_001363419.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 541,
"cds_start": 916,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_047434879.1",
"protein_id": "XP_047290835.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 884,
"cds_start": 946,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_011522738.4",
"protein_id": "XP_011521040.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 879,
"cds_start": 946,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 10120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_047434880.1",
"protein_id": "XP_047290836.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 875,
"cds_start": 946,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "XM_047434881.1",
"protein_id": "XP_047290837.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 874,
"cds_start": 916,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_011522741.4",
"protein_id": "XP_011521043.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 860,
"cds_start": 946,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 8507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_047434882.1",
"protein_id": "XP_047290838.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 847,
"cds_start": 946,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_017023873.3",
"protein_id": "XP_016879362.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 842,
"cds_start": 946,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 9996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_011522743.4",
"protein_id": "XP_011521045.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 840,
"cds_start": 946,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "XM_047434883.1",
"protein_id": "XP_047290839.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 837,
"cds_start": 916,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "XM_017023874.2",
"protein_id": "XP_016879363.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 832,
"cds_start": 916,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 9774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_005255682.5",
"protein_id": "XP_005255739.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 823,
"cds_start": 946,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_011522744.4",
"protein_id": "XP_011521046.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 803,
"cds_start": 946,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "XM_047434884.1",
"protein_id": "XP_047290840.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 793,
"cds_start": 916,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"transcript": "XM_047434885.1",
"protein_id": "XP_047290841.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 722,
"cds_start": 460,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"transcript": "XM_047434886.1",
"protein_id": "XP_047290842.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 661,
"cds_start": 460,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_005255683.5",
"protein_id": "XP_005255740.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 551,
"cds_start": 946,
"cds_end": null,
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"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_017023876.3",
"protein_id": "XP_016879365.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 548,
"cds_start": 946,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Ala306Pro",
"transcript": "XM_047434887.1",
"protein_id": "XP_047290843.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 538,
"cds_start": 916,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "n.978G>C",
"hgvs_p": null,
"transcript": "ENST00000564111.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX29",
"gene_hgnc_id": 30542,
"hgvs_c": "n.1224G>C",
"hgvs_p": null,
"transcript": "XR_001752024.3",
"protein_id": null,
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},
{
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{
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{
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}
],
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"allele_count_reference_population": 0,
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"computational_score_selected": 0.1296318769454956,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}