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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: 17-19742133-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19742133&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19742133,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000691.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_000691.5",
"protein_id": "NP_000682.3",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225740.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000691.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000225740.11",
"protein_id": "ENSP00000225740.6",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000691.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225740.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000457500.6",
"protein_id": "ENSP00000411821.2",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457500.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905965.1",
"protein_id": "ENSP00000576024.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 460,
"cds_start": 560,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905965.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_001135167.1",
"protein_id": "NP_001128639.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135167.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_001135168.1",
"protein_id": "NP_001128640.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135168.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000444455.5",
"protein_id": "ENSP00000388469.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444455.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905961.1",
"protein_id": "ENSP00000576020.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905961.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905963.1",
"protein_id": "ENSP00000576022.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905963.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905966.1",
"protein_id": "ENSP00000576025.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905966.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905967.1",
"protein_id": "ENSP00000576026.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905967.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905968.1",
"protein_id": "ENSP00000576027.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905968.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000946889.1",
"protein_id": "ENSP00000616948.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 453,
"cds_start": 560,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946889.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000905964.1",
"protein_id": "ENSP00000576023.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 450,
"cds_start": 551,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905964.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000905962.1",
"protein_id": "ENSP00000576021.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 444,
"cds_start": 560,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905962.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000395555.7",
"protein_id": "ENSP00000378923.3",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 389,
"cds_start": 560,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395555.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "NM_001330150.2",
"protein_id": "NP_001317079.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 380,
"cds_start": 341,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330150.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000494157.6",
"protein_id": "ENSP00000460482.2",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 380,
"cds_start": 341,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494157.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000439102.6",
"protein_id": "ENSP00000389766.2",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439102.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"transcript": "ENST00000426645.2",
"protein_id": "ENSP00000388369.2",
"transcript_support_level": 3,
"aa_start": 177,
"aa_end": null,
"aa_length": 258,
"cds_start": 530,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426645.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Thr304Met",
"transcript": "XM_047435595.1",
"protein_id": "XP_047291551.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 570,
"cds_start": 911,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435595.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "XM_011523731.3",
"protein_id": "XP_011522033.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 380,
"cds_start": 341,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523731.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "n.560C>T",
"hgvs_p": null,
"transcript": "ENST00000468746.5",
"protein_id": "ENSP00000434685.1",
"transcript_support_level": 3,
"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": "ENST00000468746.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "n.1105C>T",
"hgvs_p": null,
"transcript": "ENST00000479677.6",
"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": "ENST00000479677.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"hgvs_c": "n.435C>T",
"hgvs_p": null,
"transcript": "ENST00000485472.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000485472.3"
}
],
"gene_symbol": "ALDH3A1",
"gene_hgnc_id": 405,
"dbsnp": "rs771902173",
"frequency_reference_population": 0.0000148704785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000129978,
"gnomad_genomes_af": 0.0000328627,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9801177978515625,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.687,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.311,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000691.5",
"gene_symbol": "ALDH3A1",
"hgnc_id": 405,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met"
}
],
"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
}