← Back to variant description
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: 4-99061290-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99061290&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99061290,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015143.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1134A>G",
"hgvs_p": "p.Ala378Ala",
"transcript": "NM_015143.3",
"protein_id": "NP_055958.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 386,
"cds_start": 1134,
"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": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1134A>G",
"hgvs_p": "p.Ala378Ala",
"transcript": "ENST00000296411.11",
"protein_id": "ENSP00000296411.6",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 386,
"cds_start": 1134,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.324A>G",
"hgvs_p": "p.Ala108Ala",
"transcript": "ENST00000514051.1",
"protein_id": "ENSP00000422689.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 116,
"cds_start": 324,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1131A>G",
"hgvs_p": "p.Ala377Ala",
"transcript": "ENST00000869926.1",
"protein_id": "ENSP00000539985.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 385,
"cds_start": 1131,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1131A>G",
"hgvs_p": "p.Ala377Ala",
"transcript": "ENST00000969299.1",
"protein_id": "ENSP00000639358.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 385,
"cds_start": 1131,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1125A>G",
"hgvs_p": "p.Ala375Ala",
"transcript": "ENST00000924347.1",
"protein_id": "ENSP00000594406.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 383,
"cds_start": 1125,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104A>G",
"hgvs_p": "p.Ala368Ala",
"transcript": "ENST00000869927.1",
"protein_id": "ENSP00000539986.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 376,
"cds_start": 1104,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1077A>G",
"hgvs_p": "p.Ala359Ala",
"transcript": "ENST00000869928.1",
"protein_id": "ENSP00000539987.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 367,
"cds_start": 1077,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1068A>G",
"hgvs_p": "p.Ala356Ala",
"transcript": "ENST00000869925.1",
"protein_id": "ENSP00000539984.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 364,
"cds_start": 1068,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000924346.1",
"protein_id": "ENSP00000594405.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 345,
"cds_start": 1011,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.924A>G",
"hgvs_p": "p.Ala308Ala",
"transcript": "ENST00000924345.1",
"protein_id": "ENSP00000594404.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 316,
"cds_start": 924,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.921A>G",
"hgvs_p": "p.Ala307Ala",
"transcript": "ENST00000924348.1",
"protein_id": "ENSP00000594407.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 315,
"cds_start": 921,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.885A>G",
"hgvs_p": "p.Ala295Ala",
"transcript": "ENST00000969300.1",
"protein_id": "ENSP00000639359.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 303,
"cds_start": 885,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.486A>G",
"hgvs_p": "p.Ala162Ala",
"transcript": "ENST00000510133.5",
"protein_id": "ENSP00000423071.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 170,
"cds_start": 486,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1095A>G",
"hgvs_p": "p.Ala365Ala",
"transcript": "XM_011531777.4",
"protein_id": "XP_011530079.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 373,
"cds_start": 1095,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1029A>G",
"hgvs_p": "p.Ala343Ala",
"transcript": "XM_011531778.3",
"protein_id": "XP_011530080.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 351,
"cds_start": 1029,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1002A>G",
"hgvs_p": "p.Ala334Ala",
"transcript": "XM_011531779.3",
"protein_id": "XP_011530081.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 342,
"cds_start": 1002,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.990A>G",
"hgvs_p": "p.Ala330Ala",
"transcript": "XM_017007914.3",
"protein_id": "XP_016863403.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 338,
"cds_start": 990,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.984A>G",
"hgvs_p": "p.Ala328Ala",
"transcript": "XM_047449883.1",
"protein_id": "XP_047305839.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 336,
"cds_start": 984,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.984A>G",
"hgvs_p": "p.Ala328Ala",
"transcript": "XM_047449884.1",
"protein_id": "XP_047305840.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 336,
"cds_start": 984,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.984A>G",
"hgvs_p": "p.Ala328Ala",
"transcript": "XM_047449885.1",
"protein_id": "XP_047305841.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 336,
"cds_start": 984,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "XM_024453946.2",
"protein_id": "XP_024309714.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 329,
"cds_start": 963,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453946.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.897A>G",
"hgvs_p": "p.Ala299Ala",
"transcript": "XM_024453947.2",
"protein_id": "XP_024309715.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 307,
"cds_start": 897,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453947.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.855A>G",
"hgvs_p": "p.Ala285Ala",
"transcript": "XM_017007916.3",
"protein_id": "XP_016863405.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 293,
"cds_start": 855,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007916.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.855A>G",
"hgvs_p": "p.Ala285Ala",
"transcript": "XM_017007917.3",
"protein_id": "XP_016863406.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 293,
"cds_start": 855,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007917.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.792A>G",
"hgvs_p": "p.Ala264Ala",
"transcript": "XM_024453951.2",
"protein_id": "XP_024309719.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 272,
"cds_start": 792,
"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_024453951.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.792A>G",
"hgvs_p": "p.Ala264Ala",
"transcript": "XM_047449886.1",
"protein_id": "XP_047305842.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 272,
"cds_start": 792,
"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_047449886.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.792A>G",
"hgvs_p": "p.Ala264Ala",
"transcript": "XM_047449887.1",
"protein_id": "XP_047305843.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 272,
"cds_start": 792,
"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_047449887.1"
}
],
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"dbsnp": "rs79876289",
"frequency_reference_population": 0.0014431812,
"hom_count_reference_population": 32,
"allele_count_reference_population": 2329,
"gnomad_exomes_af": 0.000830674,
"gnomad_genomes_af": 0.00731954,
"gnomad_exomes_ac": 1214,
"gnomad_genomes_ac": 1115,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 16,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.629,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015143.3",
"gene_symbol": "METAP1",
"hgnc_id": 15789,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ala378Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}