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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: 2-38309477-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38309477&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 38309477,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330463.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "NM_001135673.4",
"protein_id": "NP_001129145.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 583,
"cds_start": 973,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": "ENST00000378954.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135673.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "ENST00000378954.9",
"protein_id": "ENSP00000368237.4",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 583,
"cds_start": 973,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3805,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.*578C>G",
"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": 1905,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "n.*578C>G",
"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": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405384.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "ENST00000960026.1",
"protein_id": "ENSP00000630085.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 588,
"cds_start": 973,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960026.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "NM_001330463.2",
"protein_id": "NP_001317392.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 584,
"cds_start": 973,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330463.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"transcript": "NM_001330462.1",
"protein_id": "NP_001317391.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 579,
"cds_start": 958,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "NM_022374.5",
"protein_id": "NP_071769.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 579,
"cds_start": 973,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022374.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "ENST00000419554.6",
"protein_id": "ENSP00000415336.2",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 579,
"cds_start": 973,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419554.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Arg307Gly",
"transcript": "NM_001330459.1",
"protein_id": "NP_001317388.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 566,
"cds_start": 919,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330459.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Arg307Gly",
"transcript": "NM_001308076.1",
"protein_id": "NP_001295005.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 565,
"cds_start": 919,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308076.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Arg307Gly",
"transcript": "ENST00000452935.6",
"protein_id": "ENSP00000390743.2",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 565,
"cds_start": 919,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452935.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "ENST00000879827.1",
"protein_id": "ENSP00000549886.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 564,
"cds_start": 973,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879827.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Arg275Gly",
"transcript": "ENST00000879828.1",
"protein_id": "ENSP00000549887.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 533,
"cds_start": 823,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879828.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly",
"transcript": "ENST00000879829.1",
"protein_id": "ENSP00000549888.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 439,
"cds_start": 973,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879829.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.538C>G",
"hgvs_p": "p.Arg180Gly",
"transcript": "ENST00000940194.1",
"protein_id": "ENSP00000610253.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 438,
"cds_start": 538,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940194.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "NM_001330460.1",
"protein_id": "NP_001317389.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 413,
"cds_start": 460,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "NM_001330461.2",
"protein_id": "NP_001317390.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 413,
"cds_start": 460,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330461.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "ENST00000406122.5",
"protein_id": "ENSP00000385446.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 413,
"cds_start": 460,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406122.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "NM_001330458.2",
"protein_id": "NP_001317387.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 412,
"cds_start": 460,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330458.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "ENST00000402054.5",
"protein_id": "ENSP00000384062.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 412,
"cds_start": 460,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402054.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Arg154Gly",
"transcript": "ENST00000651368.1",
"protein_id": "ENSP00000498813.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 412,
"cds_start": 460,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651368.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "NM_001330464.2",
"protein_id": "NP_001317393.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 356,
"cds_start": 292,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330464.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.727C>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000443098.5",
"protein_id": "ENSP00000410592.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 256,
"cds_start": 727,
"cds_end": null,
"cds_length": 773,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443098.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "ENST00000449130.5",
"protein_id": "ENSP00000409811.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 174,
"cds_start": 427,
"cds_end": null,
"cds_length": 525,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449130.5"
}
],
"gene_symbol": "ATL2",
"gene_hgnc_id": 24047,
"dbsnp": "rs763899562",
"frequency_reference_population": 0.0000080636255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000753284,
"gnomad_genomes_af": 0.000013166,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32228249311447144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.619,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330463.2",
"gene_symbol": "ATL2",
"hgnc_id": 24047,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Arg325Gly"
}
],
"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
}