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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: 2-38298267-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38298267&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 38298267,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330463.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "NM_001135673.4",
"protein_id": "NP_001129145.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 583,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378954.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135673.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "ENST00000378954.9",
"protein_id": "ENSP00000368237.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 583,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135673.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378954.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.*1114G>T",
"hgvs_p": null,
"transcript": "ENST00000405384.6",
"protein_id": "ENSP00000383944.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405384.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.*1114G>T",
"hgvs_p": null,
"transcript": "ENST00000405384.6",
"protein_id": "ENSP00000383944.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405384.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "ENST00000960026.1",
"protein_id": "ENSP00000630085.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 588,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960026.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "NM_001330463.2",
"protein_id": "NP_001317392.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 584,
"cds_start": 1509,
"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": "NM_001330463.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1494G>T",
"hgvs_p": "p.Leu498Phe",
"transcript": "NM_001330462.1",
"protein_id": "NP_001317391.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 579,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330462.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "NM_022374.5",
"protein_id": "NP_071769.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 579,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022374.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe",
"transcript": "ENST00000419554.6",
"protein_id": "ENSP00000415336.2",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 579,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419554.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1455G>T",
"hgvs_p": "p.Leu485Phe",
"transcript": "NM_001330459.1",
"protein_id": "NP_001317388.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 566,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330459.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1455G>T",
"hgvs_p": "p.Leu485Phe",
"transcript": "NM_001308076.1",
"protein_id": "NP_001295005.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 565,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308076.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1455G>T",
"hgvs_p": "p.Leu485Phe",
"transcript": "ENST00000452935.6",
"protein_id": "ENSP00000390743.2",
"transcript_support_level": 2,
"aa_start": 485,
"aa_end": null,
"aa_length": 565,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452935.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1452G>T",
"hgvs_p": "p.Leu484Phe",
"transcript": "ENST00000879827.1",
"protein_id": "ENSP00000549886.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 564,
"cds_start": 1452,
"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": "ENST00000879827.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1359G>T",
"hgvs_p": "p.Leu453Phe",
"transcript": "ENST00000879828.1",
"protein_id": "ENSP00000549887.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 533,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879828.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1074G>T",
"hgvs_p": "p.Leu358Phe",
"transcript": "ENST00000940194.1",
"protein_id": "ENSP00000610253.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 438,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940194.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001330460.1",
"protein_id": "NP_001317389.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 413,
"cds_start": 996,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330460.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001330461.2",
"protein_id": "NP_001317390.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 413,
"cds_start": 996,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330461.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "ENST00000406122.5",
"protein_id": "ENSP00000385446.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 413,
"cds_start": 996,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406122.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001330458.2",
"protein_id": "NP_001317387.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 412,
"cds_start": 996,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330458.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "ENST00000402054.5",
"protein_id": "ENSP00000384062.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 412,
"cds_start": 996,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402054.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Leu332Phe",
"transcript": "ENST00000651368.1",
"protein_id": "ENSP00000498813.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 412,
"cds_start": 996,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651368.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.828G>T",
"hgvs_p": "p.Leu276Phe",
"transcript": "NM_001330464.2",
"protein_id": "NP_001317393.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 356,
"cds_start": 828,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330464.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.1200+989G>T",
"hgvs_p": null,
"transcript": "ENST00000879829.1",
"protein_id": "ENSP00000549888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.428G>T",
"hgvs_p": null,
"transcript": "ENST00000477642.5",
"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": "ENST00000477642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.543G>T",
"hgvs_p": null,
"transcript": "ENST00000489896.1",
"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": "ENST00000489896.1"
}
],
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"dbsnp": "rs537244506",
"frequency_reference_population": 0.000004956218,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478848,
"gnomad_genomes_af": 0.00000656633,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14310988783836365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.312,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.485,
"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_001330463.2",
"gene_symbol": "ATL2",
"hgnc_id": 24047,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Leu503Phe"
}
],
"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
}