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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: 5-181050232-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=181050232&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 181050232,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152547.5",
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_152547.5",
"protein_id": "NP_689760.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 535,
"cds_start": 599,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327705.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152547.5"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000327705.14",
"protein_id": "ENSP00000330200.9",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 535,
"cds_start": 599,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152547.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327705.14"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000376841.6",
"protein_id": "ENSP00000366037.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 344,
"cds_start": 599,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376841.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864445.1",
"protein_id": "ENSP00000534504.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 571,
"cds_start": 599,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864445.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864439.1",
"protein_id": "ENSP00000534498.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 564,
"cds_start": 599,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864439.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864440.1",
"protein_id": "ENSP00000534499.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 557,
"cds_start": 599,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864440.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864441.1",
"protein_id": "ENSP00000534500.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 528,
"cds_start": 599,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864441.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864443.1",
"protein_id": "ENSP00000534502.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 528,
"cds_start": 599,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864443.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000969777.1",
"protein_id": "ENSP00000639836.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 524,
"cds_start": 599,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969777.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864442.1",
"protein_id": "ENSP00000534501.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 521,
"cds_start": 599,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864442.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000969778.1",
"protein_id": "ENSP00000639837.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 517,
"cds_start": 599,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969778.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864444.1",
"protein_id": "ENSP00000534503.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 512,
"cds_start": 599,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864444.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000864446.1",
"protein_id": "ENSP00000534505.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 510,
"cds_start": 599,
"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": "ENST00000864446.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000969776.1",
"protein_id": "ENSP00000639835.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 420,
"cds_start": 254,
"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": "ENST00000969776.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001308245.2",
"protein_id": "NP_001295174.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 344,
"cds_start": 599,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308245.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000515271.1",
"protein_id": "ENSP00000427345.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515271.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_024454380.2",
"protein_id": "XP_024310148.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 564,
"cds_start": 599,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454380.2"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_047416816.1",
"protein_id": "XP_047272772.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 557,
"cds_start": 599,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416816.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_006714823.5",
"protein_id": "XP_006714886.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 528,
"cds_start": 599,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714823.5"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_006714824.5",
"protein_id": "XP_006714887.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 528,
"cds_start": 599,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714824.5"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_017009113.3",
"protein_id": "XP_016864602.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 521,
"cds_start": 599,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009113.3"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "XM_047416817.1",
"protein_id": "XP_047272773.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 392,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416817.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "XM_047416818.1",
"protein_id": "XP_047272774.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 392,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416818.1"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_011534444.4",
"protein_id": "XP_011532746.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 344,
"cds_start": 599,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534444.4"
},
{
"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": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "XM_017009115.3",
"protein_id": "XP_016864604.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 330,
"cds_start": 599,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009115.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTNL9",
"gene_hgnc_id": 24176,
"hgvs_c": "n.599C>T",
"hgvs_p": null,
"transcript": "ENST00000491209.5",
"protein_id": "ENSP00000425424.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491209.5"
}
],
"gene_symbol": "BTNL9",
"gene_hgnc_id": 24176,
"dbsnp": "rs746263568",
"frequency_reference_population": 0.0000013681669,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136817,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0544009804725647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.1441,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.042,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152547.5",
"gene_symbol": "BTNL9",
"hgnc_id": 24176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val"
}
],
"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
}