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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: 6-26444224-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26444224&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26444224,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006994.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "NM_006994.5",
"protein_id": "NP_008925.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244519.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006994.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000244519.7",
"protein_id": "ENSP00000244519.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006994.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244519.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000949570.1",
"protein_id": "ENSP00000619629.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 589,
"cds_start": 353,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949570.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878509.1",
"protein_id": "ENSP00000548568.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878509.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878510.1",
"protein_id": "ENSP00000548569.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878510.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878511.1",
"protein_id": "ENSP00000548570.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878511.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878515.1",
"protein_id": "ENSP00000548574.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878515.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000949571.1",
"protein_id": "ENSP00000619630.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949571.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000949572.1",
"protein_id": "ENSP00000619631.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 575,
"cds_start": 353,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949572.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878508.1",
"protein_id": "ENSP00000548567.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 558,
"cds_start": 353,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878508.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878514.1",
"protein_id": "ENSP00000548573.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 551,
"cds_start": 353,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878514.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "NM_197974.3",
"protein_id": "NP_932078.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 535,
"cds_start": 227,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197974.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "ENST00000361232.7",
"protein_id": "ENSP00000355238.3",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 535,
"cds_start": 227,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361232.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000949569.1",
"protein_id": "ENSP00000619628.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 532,
"cds_start": 353,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949569.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"transcript": "ENST00000878516.1",
"protein_id": "ENSP00000548575.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 525,
"cds_start": 197,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878516.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878512.1",
"protein_id": "ENSP00000548571.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 510,
"cds_start": 353,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878512.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878513.1",
"protein_id": "ENSP00000548572.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 457,
"cds_start": 353,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878513.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000878507.1",
"protein_id": "ENSP00000548566.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 416,
"cds_start": 353,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878507.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "NM_001242803.2",
"protein_id": "NP_001229732.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 374,
"cds_start": 227,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242803.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "ENST00000487272.1",
"protein_id": "ENSP00000419445.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 249,
"cds_start": 227,
"cds_end": null,
"cds_length": 751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487272.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000496719.1",
"protein_id": "ENSP00000420147.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 236,
"cds_start": 353,
"cds_end": null,
"cds_length": 713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496719.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A3",
"gene_hgnc_id": 1140,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"transcript": "ENST00000490254.5",
"protein_id": "ENSP00000419736.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 209,
"cds_start": 227,
"cds_end": null,
"cds_length": 631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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],
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"exon_count": 5,
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"gene_symbol": "BTN3A3",
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"hgvs_c": "c.299C>T",
"hgvs_p": "p.Ala100Val",
"transcript": "ENST00000482451.5",
"protein_id": "ENSP00000419312.1",
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"biotype": "protein_coding",
"feature": "ENST00000482451.5"
},
{
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],
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"gene_symbol": "BTN3A3",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"biotype": "retained_intron",
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{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ENSG00000291336",
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"hgvs_c": "n.1000-108963C>T",
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"biotype": "TEC",
"feature": "ENST00000707189.1"
},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ENSG00000291338",
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"biotype": "TEC",
"feature": "ENST00000707191.1"
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],
"gene_symbol": "BTN3A3",
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"dbsnp": "rs763133805",
"frequency_reference_population": 0.000006824236,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000616558,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07488429546356201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.034,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006994.5",
"gene_symbol": "BTN3A3",
"hgnc_id": 1140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-108963C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-88481C>T",
"hgvs_p": null
}
],
"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
}