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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: 3-108351844-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=108351844&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 108351844,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007072.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "NM_001282556.2",
"protein_id": "NP_001269485.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000467761.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282556.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000467761.6",
"protein_id": "ENSP00000419207.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282556.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467761.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000357759.9",
"protein_id": "ENSP00000350402.5",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357759.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000489514.6",
"protein_id": "ENSP00000417856.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489514.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000491820.5",
"protein_id": "ENSP00000418284.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 397,
"cds_start": 31,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491820.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896079.1",
"protein_id": "ENSP00000566138.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 441,
"cds_start": 31,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896079.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896086.1",
"protein_id": "ENSP00000566145.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 441,
"cds_start": 31,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896086.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "NM_001282557.2",
"protein_id": "NP_001269486.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282557.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "NM_001370244.1",
"protein_id": "NP_001357173.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370244.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "NM_007072.4",
"protein_id": "NP_009003.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007072.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896068.1",
"protein_id": "ENSP00000566127.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896068.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896069.1",
"protein_id": "ENSP00000566128.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896069.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896070.1",
"protein_id": "ENSP00000566129.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896070.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896071.1",
"protein_id": "ENSP00000566130.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896071.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896072.1",
"protein_id": "ENSP00000566131.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896072.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896075.1",
"protein_id": "ENSP00000566134.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896075.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896076.1",
"protein_id": "ENSP00000566135.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896076.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896077.1",
"protein_id": "ENSP00000566136.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896077.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896078.1",
"protein_id": "ENSP00000566137.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896078.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896080.1",
"protein_id": "ENSP00000566139.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896080.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896082.1",
"protein_id": "ENSP00000566141.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896082.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "ENST00000896083.1",
"protein_id": "ENSP00000566142.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447369.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "XM_005247080.4",
"protein_id": "XP_005247137.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 414,
"cds_start": 31,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247080.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe",
"transcript": "XM_011512367.4",
"protein_id": "XP_011510669.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 379,
"cds_start": 31,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512367.4"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"hgvs_c": "c.-35-1583C>T",
"hgvs_p": null,
"transcript": "ENST00000467282.5",
"protein_id": "ENSP00000420622.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467282.5"
}
],
"gene_symbol": "HHLA2",
"gene_hgnc_id": 4905,
"dbsnp": "rs775538346",
"frequency_reference_population": 0.000008062725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000547865,
"gnomad_genomes_af": 0.0000328636,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09742361307144165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.923,
"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_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007072.4",
"gene_symbol": "HHLA2",
"hgnc_id": 4905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Leu11Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}