← 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: 1-236895528-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236895528&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236895528,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000366577.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3576C>T",
"hgvs_p": "p.Leu1192Leu",
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3988,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000366577.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3576C>T",
"hgvs_p": "p.Leu1192Leu",
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3988,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_000254.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3423C>T",
"hgvs_p": "p.Leu1141Leu",
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Leu746Leu",
"transcript": "ENST00000366576.3",
"protein_id": "ENSP00000355535.3",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 819,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3423C>T",
"hgvs_p": "p.Leu1141Leu",
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 10405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3396C>T",
"hgvs_p": "p.Leu1132Leu",
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3387C>T",
"hgvs_p": "p.Leu1129Leu",
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3387,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3799,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3387C>T",
"hgvs_p": "p.Leu1129Leu",
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3387,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3228C>T",
"hgvs_p": "p.Leu1076Leu",
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3138C>T",
"hgvs_p": "p.Leu1046Leu",
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2355C>T",
"hgvs_p": "p.Leu785Leu",
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 858,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 3875,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3744C>T",
"hgvs_p": "p.Leu1248Leu",
"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3591C>T",
"hgvs_p": "p.Leu1197Leu",
"transcript": "XM_017001329.3",
"protein_id": "XP_016856818.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3591,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3573C>T",
"hgvs_p": "p.Leu1191Leu",
"transcript": "XM_005273141.6",
"protein_id": "XP_005273198.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3573,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3996,
"cdna_end": null,
"cdna_length": 10555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3555C>T",
"hgvs_p": "p.Leu1185Leu",
"transcript": "XM_017001330.3",
"protein_id": "XP_016856819.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3555,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 10154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3420C>T",
"hgvs_p": "p.Leu1140Leu",
"transcript": "XM_047421182.1",
"protein_id": "XP_047277138.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Leu1134Leu",
"transcript": "XM_047421183.1",
"protein_id": "XP_047277139.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3402,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3442,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Leu1128Leu",
"transcript": "XM_047421185.1",
"protein_id": "XP_047277141.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3384,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 10366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3234C>T",
"hgvs_p": "p.Leu1078Leu",
"transcript": "XM_047421186.1",
"protein_id": "XP_047277142.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3234,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3657,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2640C>T",
"hgvs_p": "p.Leu880Leu",
"transcript": "XM_047421187.1",
"protein_id": "XP_047277143.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 953,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 9288,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.4306C>T",
"hgvs_p": null,
"transcript": "ENST00000470570.2",
"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": 7293,
"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": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2618C>T",
"hgvs_p": null,
"transcript": "ENST00000650888.1",
"protein_id": "ENSP00000498393.1",
"transcript_support_level": null,
"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": 5698,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2320C>T",
"hgvs_p": null,
"transcript": "ENST00000651455.1",
"protein_id": "ENSP00000498963.1",
"transcript_support_level": null,
"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": 4197,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.6703C>T",
"hgvs_p": null,
"transcript": "ENST00000679569.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9937,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.6833C>T",
"hgvs_p": null,
"transcript": "ENST00000680454.1",
"protein_id": null,
"transcript_support_level": null,
"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": 10067,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.3770C>T",
"hgvs_p": null,
"transcript": "ENST00000681937.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2618C>T",
"hgvs_p": null,
"transcript": "ENST00000650888.1",
"protein_id": "ENSP00000498393.1",
"transcript_support_level": null,
"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": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2320C>T",
"hgvs_p": null,
"transcript": "ENST00000651455.1",
"protein_id": "ENSP00000498963.1",
"transcript_support_level": null,
"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": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"dbsnp": "rs1131449",
"frequency_reference_population": 0.57659525,
"hom_count_reference_population": 264432,
"allele_count_reference_population": 911333,
"gnomad_exomes_af": 0.580018,
"gnomad_genomes_af": 0.54442,
"gnomad_exomes_ac": 828591,
"gnomad_genomes_ac": 82742,
"gnomad_exomes_homalt": 241513,
"gnomad_genomes_homalt": 22919,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.367,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000366577.10",
"gene_symbol": "MTR",
"hgnc_id": 7468,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3576C>T",
"hgvs_p": "p.Leu1192Leu"
}
],
"clinvar_disease": "Disorders of Intracellular Cobalamin Metabolism,Methylcobalamin deficiency type cblG,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}