← 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: 6-26385274-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26385274&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26385274,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006995.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_006995.5",
"protein_id": "NP_008926.2",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356709.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006995.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000356709.9",
"protein_id": "ENSP00000349143.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006995.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356709.9"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000416795.6",
"protein_id": "ENSP00000399308.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416795.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000469230.5",
"protein_id": "ENSP00000417472.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 336,
"cds_start": 354,
"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": "ENST00000469230.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960904.1",
"protein_id": "ENSP00000630963.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 529,
"cds_start": 354,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960904.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001197237.2",
"protein_id": "NP_001184166.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197237.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000923335.1",
"protein_id": "ENSP00000593394.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923335.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960896.1",
"protein_id": "ENSP00000630955.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960896.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000923334.1",
"protein_id": "ENSP00000593393.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 514,
"cds_start": 354,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923334.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960897.1",
"protein_id": "ENSP00000630956.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 509,
"cds_start": 354,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960897.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960895.1",
"protein_id": "ENSP00000630954.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 461,
"cds_start": 354,
"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": "ENST00000960895.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960902.1",
"protein_id": "ENSP00000630961.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 461,
"cds_start": 354,
"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": "ENST00000960902.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960905.1",
"protein_id": "ENSP00000630964.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 461,
"cds_start": 354,
"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": "ENST00000960905.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960901.1",
"protein_id": "ENSP00000630960.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 429,
"cds_start": 354,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960901.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000960903.1",
"protein_id": "ENSP00000630962.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 429,
"cds_start": 354,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960903.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001197238.2",
"protein_id": "NP_001184167.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 336,
"cds_start": 354,
"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": "NM_001197238.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001197240.2",
"protein_id": "NP_001184169.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 256,
"cds_start": 354,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197240.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000432533.6",
"protein_id": "ENSP00000394241.2",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 256,
"cds_start": 354,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432533.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000493275.5",
"protein_id": "ENSP00000418857.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 238,
"cds_start": 354,
"cds_end": null,
"cds_length": 719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493275.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "XM_005248797.4",
"protein_id": "XP_005248854.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248797.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "XM_011514228.3",
"protein_id": "XP_011512530.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 354,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514228.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "XM_017010166.3",
"protein_id": "XP_016865655.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 461,
"cds_start": 354,
"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": "XM_017010166.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "XM_006714955.4",
"protein_id": "XP_006715018.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 353,
"cds_start": 354,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714955.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn",
"transcript": "XM_047418075.1",
"protein_id": "XP_047274031.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 267,
"cds_start": 354,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "NM_181531.3",
"protein_id": "NP_853509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181531.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000352867.6",
"protein_id": "ENSP00000337117.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352867.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960898.1",
"protein_id": "ENSP00000630957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960909.1",
"protein_id": "ENSP00000630968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960899.1",
"protein_id": "ENSP00000630958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"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": "ENST00000960899.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960900.1",
"protein_id": "ENSP00000630959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"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": "ENST00000960900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960907.1",
"protein_id": "ENSP00000630966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"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": "ENST00000960907.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "NM_001197239.2",
"protein_id": "NP_001184168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197239.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000482536.5",
"protein_id": "ENSP00000419451.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482536.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960906.1",
"protein_id": "ENSP00000630965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000960908.1",
"protein_id": "ENSP00000630967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.-174+2093C>T",
"hgvs_p": null,
"transcript": "ENST00000490025.5",
"protein_id": "ENSP00000418965.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000483410.1",
"protein_id": "ENSP00000418176.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000472507.5",
"protein_id": "ENSP00000419226.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472507.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.-174+1975C>T",
"hgvs_p": null,
"transcript": "ENST00000482842.1",
"protein_id": "ENSP00000417676.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "XM_005248798.5",
"protein_id": "XP_005248855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248798.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.94+1359C>T",
"hgvs_p": null,
"transcript": "XM_011514231.4",
"protein_id": "XP_011512533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514231.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "n.*106C>T",
"hgvs_p": null,
"transcript": "ENST00000471116.5",
"protein_id": "ENSP00000418657.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000471116.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "n.423C>T",
"hgvs_p": null,
"transcript": "ENST00000482636.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000482636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "n.*106C>T",
"hgvs_p": null,
"transcript": "ENST00000471116.5",
"protein_id": "ENSP00000418657.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000471116.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "n.204+1359C>T",
"hgvs_p": null,
"transcript": "ENST00000467485.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000467485.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291336",
"gene_hgnc_id": null,
"hgvs_c": "n.1000-167913C>T",
"hgvs_p": null,
"transcript": "ENST00000707189.1",
"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": "TEC",
"feature": "ENST00000707189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291338",
"gene_hgnc_id": null,
"hgvs_c": "n.1001-147431C>T",
"hgvs_p": null,
"transcript": "ENST00000707191.1",
"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": "TEC",
"feature": "ENST00000707191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"hgvs_c": "c.*65C>T",
"hgvs_p": null,
"transcript": "ENST00000494184.1",
"protein_id": "ENSP00000417511.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494184.1"
}
],
"gene_symbol": "BTN2A2",
"gene_hgnc_id": 1137,
"dbsnp": "rs143017993",
"frequency_reference_population": 0.00034382613,
"hom_count_reference_population": 1,
"allele_count_reference_population": 555,
"gnomad_exomes_af": 0.000344759,
"gnomad_genomes_af": 0.00033487,
"gnomad_exomes_ac": 504,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"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": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.294,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006995.5",
"gene_symbol": "BTN2A2",
"hgnc_id": 1137,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Asn118Asn"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-167913C>T",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-147431C>T",
"hgvs_p": null
}
],
"clinvar_disease": "BTN2A2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "BTN2A2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}