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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: 22-30615657-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30615657&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30615657,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000355.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "NM_000355.4",
"protein_id": "NP_000346.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 427,
"cds_start": 810,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215838.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000355.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000215838.8",
"protein_id": "ENSP00000215838.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 427,
"cds_start": 810,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000355.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215838.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Ala243Ala",
"transcript": "ENST00000407817.3",
"protein_id": "ENSP00000384914.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 400,
"cds_start": 729,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407817.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000947107.1",
"protein_id": "ENSP00000617166.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 468,
"cds_start": 810,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947107.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000883718.1",
"protein_id": "ENSP00000553777.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 461,
"cds_start": 810,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883718.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Ala280Ala",
"transcript": "ENST00000698271.1",
"protein_id": "ENSP00000513642.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 437,
"cds_start": 840,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698271.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000698268.1",
"protein_id": "ENSP00000513639.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 436,
"cds_start": 810,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698268.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000698266.1",
"protein_id": "ENSP00000513637.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 431,
"cds_start": 810,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698266.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000883717.1",
"protein_id": "ENSP00000553776.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 425,
"cds_start": 804,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883717.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Ala267Ala",
"transcript": "ENST00000698272.1",
"protein_id": "ENSP00000513643.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 424,
"cds_start": 801,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698272.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Ala267Ala",
"transcript": "ENST00000698273.1",
"protein_id": "ENSP00000513644.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 424,
"cds_start": 801,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698273.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"transcript": "ENST00000405742.7",
"protein_id": "ENSP00000385914.3",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 423,
"cds_start": 798,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405742.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000698265.1",
"protein_id": "ENSP00000513636.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 422,
"cds_start": 810,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698265.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Ala263Ala",
"transcript": "ENST00000947108.1",
"protein_id": "ENSP00000617167.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 420,
"cds_start": 789,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947108.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.735G>A",
"hgvs_p": "p.Ala245Ala",
"transcript": "ENST00000450638.5",
"protein_id": "ENSP00000394184.2",
"transcript_support_level": 3,
"aa_start": 245,
"aa_end": null,
"aa_length": 402,
"cds_start": 735,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450638.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Ala243Ala",
"transcript": "NM_001184726.2",
"protein_id": "NP_001171655.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 400,
"cds_start": 729,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184726.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Ala240Ala",
"transcript": "ENST00000883716.1",
"protein_id": "ENSP00000553775.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 397,
"cds_start": 720,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883716.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Ala243Ala",
"transcript": "ENST00000947106.1",
"protein_id": "ENSP00000617165.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 395,
"cds_start": 729,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947106.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.657G>A",
"hgvs_p": "p.Ala219Ala",
"transcript": "ENST00000698270.1",
"protein_id": "ENSP00000513641.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 376,
"cds_start": 657,
"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": "ENST00000698270.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala",
"transcript": "ENST00000698263.1",
"protein_id": "ENSP00000513635.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 371,
"cds_start": 810,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698263.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "c.294G>A",
"hgvs_p": "p.Ala98Ala",
"transcript": "ENST00000927599.1",
"protein_id": "ENSP00000597658.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 255,
"cds_start": 294,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.2287G>A",
"hgvs_p": null,
"transcript": "ENST00000471659.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471659.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.2287G>A",
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"transcript": "ENST00000698264.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.810G>A",
"hgvs_p": null,
"transcript": "ENST00000698267.1",
"protein_id": "ENSP00000513638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.*376G>A",
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"transcript": "ENST00000698269.1",
"protein_id": "ENSP00000513640.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.*376G>A",
"hgvs_p": null,
"transcript": "ENST00000698269.1",
"protein_id": "ENSP00000513640.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"hgvs_c": "n.-59G>A",
"hgvs_p": null,
"transcript": "ENST00000493542.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493542.1"
}
],
"gene_symbol": "TCN2",
"gene_hgnc_id": 11653,
"dbsnp": "rs61748898",
"frequency_reference_population": 0.0013294561,
"hom_count_reference_population": 5,
"allele_count_reference_population": 2146,
"gnomad_exomes_af": 0.00137222,
"gnomad_genomes_af": 0.000919033,
"gnomad_exomes_ac": 2006,
"gnomad_genomes_ac": 140,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.791,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000355.4",
"gene_symbol": "TCN2",
"hgnc_id": 11653,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Ala270Ala"
}
],
"clinvar_disease": "Transcobalamin II deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Transcobalamin II deficiency|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}