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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: 4-99061273-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99061273&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99061273,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015143.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Trp",
"transcript": "NM_015143.3",
"protein_id": "NP_055958.2",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 386,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296411.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015143.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Trp",
"transcript": "ENST00000296411.11",
"protein_id": "ENSP00000296411.6",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 386,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015143.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296411.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000514051.1",
"protein_id": "ENSP00000422689.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 116,
"cds_start": 307,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514051.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372Trp",
"transcript": "ENST00000869926.1",
"protein_id": "ENSP00000539985.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869926.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372Trp",
"transcript": "ENST00000969299.1",
"protein_id": "ENSP00000639358.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969299.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Trp",
"transcript": "ENST00000924347.1",
"protein_id": "ENSP00000594406.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 383,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924347.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "ENST00000869927.1",
"protein_id": "ENSP00000539986.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1087,
"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": "ENST00000869927.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Trp",
"transcript": "ENST00000869928.1",
"protein_id": "ENSP00000539987.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 367,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869928.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "ENST00000869925.1",
"protein_id": "ENSP00000539984.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869925.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332Trp",
"transcript": "ENST00000924346.1",
"protein_id": "ENSP00000594405.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 345,
"cds_start": 994,
"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": "ENST00000924346.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "ENST00000924345.1",
"protein_id": "ENSP00000594404.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 316,
"cds_start": 907,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924345.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Trp",
"transcript": "ENST00000924348.1",
"protein_id": "ENSP00000594407.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 315,
"cds_start": 904,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924348.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "ENST00000969300.1",
"protein_id": "ENSP00000639359.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 303,
"cds_start": 868,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969300.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "ENST00000510133.5",
"protein_id": "ENSP00000423071.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 170,
"cds_start": 469,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510133.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "XM_011531777.4",
"protein_id": "XP_011530079.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 373,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531777.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
"transcript": "XM_011531778.3",
"protein_id": "XP_011530080.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 351,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531778.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329Trp",
"transcript": "XM_011531779.3",
"protein_id": "XP_011530081.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 342,
"cds_start": 985,
"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": "XM_011531779.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Trp",
"transcript": "XM_017007914.3",
"protein_id": "XP_016863403.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 338,
"cds_start": 973,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007914.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "XM_047449883.1",
"protein_id": "XP_047305839.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 336,
"cds_start": 967,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449883.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "XM_047449884.1",
"protein_id": "XP_047305840.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 336,
"cds_start": 967,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449884.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "XM_047449885.1",
"protein_id": "XP_047305841.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 336,
"cds_start": 967,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449885.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "XM_024453946.2",
"protein_id": "XP_024309714.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 329,
"cds_start": 946,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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"feature": "XM_047449887.1"
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],
"gene_symbol": "METAP1",
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"dbsnp": "rs534093387",
"frequency_reference_population": 0.00004647197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000472092,
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"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3961794376373291,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.3357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.694,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015143.3",
"gene_symbol": "METAP1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1117C>T",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}