← 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: 5-180911564-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180911564&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180911564,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040462.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "NM_001040462.3",
"protein_id": "NP_001035552.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 500,
"cds_start": 623,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": "ENST00000340184.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040462.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000340184.9",
"protein_id": "ENSP00000342197.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 500,
"cds_start": 623,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": "NM_001040462.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340184.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Met92Thr",
"transcript": "ENST00000511704.5",
"protein_id": "ENSP00000425207.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 384,
"cds_start": 275,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511704.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000231229.8",
"protein_id": "ENSP00000231229.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 347,
"cds_start": 623,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231229.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000508408.5",
"protein_id": "ENSP00000424585.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 340,
"cds_start": 623,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508408.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "n.351T>C",
"hgvs_p": null,
"transcript": "ENST00000514448.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514448.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000505126.5",
"protein_id": "ENSP00000427441.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 293,
"cds_start": 2,
"cds_end": null,
"cds_length": 882,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505126.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000897990.1",
"protein_id": "ENSP00000568049.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 599,
"cds_start": 623,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897990.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000897989.1",
"protein_id": "ENSP00000568048.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 529,
"cds_start": 623,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897989.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000946753.1",
"protein_id": "ENSP00000616812.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 623,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946753.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "ENST00000946752.1",
"protein_id": "ENSP00000616811.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 462,
"cds_start": 623,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946752.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Met92Thr",
"transcript": "NM_001159707.2",
"protein_id": "NP_001153179.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 384,
"cds_start": 275,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159707.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Met83Thr",
"transcript": "NM_001159709.2",
"protein_id": "NP_001153181.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 375,
"cds_start": 248,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159709.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Met83Thr",
"transcript": "ENST00000400707.7",
"protein_id": "ENSP00000383543.3",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 375,
"cds_start": 248,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400707.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Met83Thr",
"transcript": "ENST00000610640.4",
"protein_id": "ENSP00000483717.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 375,
"cds_start": 248,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610640.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "NM_024850.3",
"protein_id": "NP_079126.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 347,
"cds_start": 623,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024850.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "NM_001159708.2",
"protein_id": "NP_001153180.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 340,
"cds_start": 623,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159708.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Met92Thr",
"transcript": "ENST00000946754.1",
"protein_id": "ENSP00000616813.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 337,
"cds_start": 275,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946754.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.71T>C",
"hgvs_p": "p.Met24Thr",
"transcript": "NM_001159710.2",
"protein_id": "NP_001153182.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 316,
"cds_start": 71,
"cds_end": null,
"cds_length": 951,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159710.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.71T>C",
"hgvs_p": "p.Met24Thr",
"transcript": "ENST00000533815.2",
"protein_id": "ENSP00000435098.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 316,
"cds_start": 71,
"cds_end": null,
"cds_length": 951,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533815.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Met199Thr",
"transcript": "XM_047417764.1",
"protein_id": "XP_047273720.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 491,
"cds_start": 596,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417764.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr",
"transcript": "XM_011534649.3",
"protein_id": "XP_011532951.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 462,
"cds_start": 623,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534649.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Met158Thr",
"transcript": "XM_011534650.3",
"protein_id": "XP_011532952.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 450,
"cds_start": 473,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534650.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Met97Thr",
"transcript": "XM_011534651.4",
"protein_id": "XP_011532953.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 389,
"cds_start": 290,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534651.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Met89Thr",
"transcript": "XM_011534652.4",
"protein_id": "XP_011532954.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 381,
"cds_start": 266,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534652.4"
},
{
"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": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.49+12205T>C",
"hgvs_p": null,
"transcript": "ENST00000897988.1",
"protein_id": "ENSP00000568047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897988.1"
},
{
"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": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "c.49+12205T>C",
"hgvs_p": null,
"transcript": "XM_011534653.3",
"protein_id": "XP_011532955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534653.3"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "n.71T>C",
"hgvs_p": null,
"transcript": "ENST00000503543.1",
"protein_id": "ENSP00000422069.1",
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"hgvs_c": "n.345T>C",
"hgvs_p": null,
"transcript": "ENST00000513442.1",
"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": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513442.1"
}
],
"gene_symbol": "BTNL8",
"gene_hgnc_id": 26131,
"dbsnp": "rs749175716",
"frequency_reference_population": 0.000016417509,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000164175,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7305818796157837,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.4172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.262,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040462.3",
"gene_symbol": "BTNL8",
"hgnc_id": 26131,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Met208Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}