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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: 1-154273885-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154273885&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154273885,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000328703.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "NM_006118.4",
"protein_id": "NP_006109.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 279,
"cds_start": 428,
"cds_end": null,
"cds_length": 840,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "ENST00000328703.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "ENST00000328703.12",
"protein_id": "ENSP00000329002.7",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 279,
"cds_start": 428,
"cds_end": null,
"cds_length": 840,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "NM_006118.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.284G>C",
"hgvs_p": "p.Gly95Ala",
"transcript": "ENST00000457918.6",
"protein_id": "ENSP00000411448.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 231,
"cds_start": 284,
"cds_end": null,
"cds_length": 696,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.452G>C",
"hgvs_p": "p.Gly151Ala",
"transcript": "ENST00000483970.7",
"protein_id": "ENSP00000435088.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 287,
"cds_start": 452,
"cds_end": null,
"cds_length": 864,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Gly122Arg",
"transcript": "ENST00000435087.2",
"protein_id": "ENSP00000394920.2",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 283,
"cds_start": 364,
"cds_end": null,
"cds_length": 852,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "ENST00000696932.1",
"protein_id": "ENSP00000512979.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 279,
"cds_start": 428,
"cds_end": null,
"cds_length": 840,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.419G>C",
"hgvs_p": "p.Gly140Ala",
"transcript": "ENST00000696938.1",
"protein_id": "ENSP00000512983.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 276,
"cds_start": 419,
"cds_end": null,
"cds_length": 831,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000696941.1",
"protein_id": "ENSP00000512986.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 253,
"cds_start": 350,
"cds_end": null,
"cds_length": 762,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000697592.1",
"protein_id": "ENSP00000513356.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 253,
"cds_start": 350,
"cds_end": null,
"cds_length": 762,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000697830.1",
"protein_id": "ENSP00000513452.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 253,
"cds_start": 350,
"cds_end": null,
"cds_length": 762,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.284G>C",
"hgvs_p": "p.Gly95Ala",
"transcript": "NM_001018837.2",
"protein_id": "NP_001018238.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 231,
"cds_start": 284,
"cds_end": null,
"cds_length": 696,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000696944.1",
"protein_id": "ENSP00000512989.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 210,
"cds_start": 350,
"cds_end": null,
"cds_length": 635,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Gly15Ala",
"transcript": "ENST00000532105.1",
"protein_id": "ENSP00000433951.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 151,
"cds_start": 44,
"cds_end": null,
"cds_length": 456,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000696945.1",
"protein_id": "ENSP00000512990.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 119,
"cds_start": 350,
"cds_end": null,
"cds_length": 361,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.364G>C",
"hgvs_p": null,
"transcript": "ENST00000447768.7",
"protein_id": "ENSP00000403848.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.529G>C",
"hgvs_p": null,
"transcript": "ENST00000459914.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.1104G>C",
"hgvs_p": null,
"transcript": "ENST00000471326.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.690G>C",
"hgvs_p": null,
"transcript": "ENST00000477780.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.17G>C",
"hgvs_p": null,
"transcript": "ENST00000492550.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.773G>C",
"hgvs_p": null,
"transcript": "ENST00000531435.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.529G>C",
"hgvs_p": null,
"transcript": "ENST00000696931.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.428G>C",
"hgvs_p": null,
"transcript": "ENST00000696933.1",
"protein_id": "ENSP00000512980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.316+287G>C",
"hgvs_p": null,
"transcript": "ENST00000696929.1",
"protein_id": "ENSP00000512978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "n.-40G>C",
"hgvs_p": null,
"transcript": "ENST00000696930.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000696965.1",
"protein_id": "ENSP00000513004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"hgvs_c": "c.*64G>C",
"hgvs_p": null,
"transcript": "ENST00000696966.1",
"protein_id": "ENSP00000513005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": -4,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HAX1",
"gene_hgnc_id": 16915,
"dbsnp": "rs755031266",
"frequency_reference_population": 0.000120808116,
"hom_count_reference_population": 1,
"allele_count_reference_population": 195,
"gnomad_exomes_af": 0.00011834,
"gnomad_genomes_af": 0.000144507,
"gnomad_exomes_ac": 173,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11071029305458069,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.688,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000328703.12",
"gene_symbol": "HAX1",
"hgnc_id": 16915,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala"
}
],
"clinvar_disease": "Inborn genetic diseases,Kostmann syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Kostmann syndrome|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}