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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: 16-86532066-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=86532066&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 86532066,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000360900.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Pro",
"transcript": "NM_001159377.2",
"protein_id": "NP_001152849.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 383,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": "ENST00000360900.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Pro",
"transcript": "ENST00000360900.11",
"protein_id": "ENSP00000354152.6",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 383,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": "NM_001159377.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Pro",
"transcript": "ENST00000381214.9",
"protein_id": "ENSP00000370612.5",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 383,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Arg365Pro",
"transcript": "ENST00000543303.6",
"protein_id": "ENSP00000444003.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 382,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Arg365Pro",
"transcript": "ENST00000634347.1",
"protein_id": "ENSP00000489295.1",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 382,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.*902G>C",
"hgvs_p": null,
"transcript": "ENST00000566050.5",
"protein_id": "ENSP00000456910.1",
"transcript_support_level": 1,
"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": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.*902G>C",
"hgvs_p": null,
"transcript": "ENST00000566050.5",
"protein_id": "ENSP00000456910.1",
"transcript_support_level": 1,
"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": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Pro",
"transcript": "NM_001159378.2",
"protein_id": "NP_001152850.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 383,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Arg365Pro",
"transcript": "NM_001159379.2",
"protein_id": "NP_001152851.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 382,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Arg365Pro",
"transcript": "NM_022764.3",
"protein_id": "NP_073601.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 382,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "NM_001159380.2",
"protein_id": "NP_001152852.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Arg203Pro",
"transcript": "ENST00000546093.5",
"protein_id": "ENSP00000438761.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 220,
"cds_start": 608,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "XM_005256101.2",
"protein_id": "XP_005256158.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "XM_011523280.3",
"protein_id": "XP_011521582.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "XM_047434497.1",
"protein_id": "XP_047290453.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "XM_047434498.1",
"protein_id": "XP_047290454.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
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"cds_length": 1092,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Arg346Pro",
"transcript": "XM_047434499.1",
"protein_id": "XP_047290455.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Arg328Pro",
"transcript": "XM_017023571.2",
"protein_id": "XP_016879060.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 345,
"cds_start": 983,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Arg327Pro",
"transcript": "XM_017023572.3",
"protein_id": "XP_016879061.3",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 344,
"cds_start": 980,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.722G>C",
"hgvs_p": "p.Arg241Pro",
"transcript": "XM_047434503.1",
"protein_id": "XP_047290459.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 258,
"cds_start": 722,
"cds_end": null,
"cds_length": 777,
"cdna_start": 5261,
"cdna_end": null,
"cdna_length": 7141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"transcript": "XM_047434504.1",
"protein_id": "XP_047290460.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 241,
"cds_start": 671,
"cds_end": null,
"cds_length": 726,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Arg203Pro",
"transcript": "XM_047434506.1",
"protein_id": "XP_047290462.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 220,
"cds_start": 608,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Arg203Pro",
"transcript": "XM_047434507.1",
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},
{
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{
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},
{
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}
],
"gene_symbol": "MTHFSD",
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
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"acmg_by_gene": [
{
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"BP4"
],
"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
}