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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: 22-17138133-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17138133&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17138133,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033070.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "NM_033070.3",
"protein_id": "NP_149061.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 423,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336737.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033070.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "ENST00000336737.8",
"protein_id": "ENSP00000337358.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 423,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033070.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336737.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000155674.9",
"protein_id": "ENSP00000155674.5",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 393,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000155674.9"
},
{
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "n.3003G>C",
"hgvs_p": null,
"transcript": "ENST00000477157.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000477157.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1244G>C",
"hgvs_p": "p.Gly415Ala",
"transcript": "ENST00000895143.1",
"protein_id": "ENSP00000565202.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 451,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895143.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Gly414Ala",
"transcript": "ENST00000930004.1",
"protein_id": "ENSP00000600063.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 450,
"cds_start": 1241,
"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": "ENST00000930004.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1205G>C",
"hgvs_p": "p.Gly402Ala",
"transcript": "ENST00000895145.1",
"protein_id": "ENSP00000565204.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 438,
"cds_start": 1205,
"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": "ENST00000895145.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Gly398Ala",
"transcript": "ENST00000930008.1",
"protein_id": "ENSP00000600067.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 434,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930008.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Gly385Ala",
"transcript": "ENST00000930003.1",
"protein_id": "ENSP00000600062.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 421,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930003.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1145G>C",
"hgvs_p": "p.Gly382Ala",
"transcript": "ENST00000895142.1",
"protein_id": "ENSP00000565201.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 418,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895142.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000969828.1",
"protein_id": "ENSP00000639887.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 401,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969828.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_017829.6",
"protein_id": "NP_060299.4",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 393,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017829.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Gly347Ala",
"transcript": "ENST00000895146.1",
"protein_id": "ENSP00000565205.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895146.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Gly344Ala",
"transcript": "ENST00000895148.1",
"protein_id": "ENSP00000565207.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 380,
"cds_start": 1031,
"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": "ENST00000895148.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Gly324Ala",
"transcript": "ENST00000930007.1",
"protein_id": "ENSP00000600066.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 360,
"cds_start": 971,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930007.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.956G>C",
"hgvs_p": "p.Gly319Ala",
"transcript": "ENST00000895144.1",
"protein_id": "ENSP00000565203.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 355,
"cds_start": 956,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895144.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.950G>C",
"hgvs_p": "p.Gly317Ala",
"transcript": "ENST00000930006.1",
"protein_id": "ENSP00000600065.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 353,
"cds_start": 950,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930006.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.941G>C",
"hgvs_p": "p.Gly314Ala",
"transcript": "ENST00000895147.1",
"protein_id": "ENSP00000565206.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 350,
"cds_start": 941,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895147.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.767G>C",
"hgvs_p": "p.Gly256Ala",
"transcript": "ENST00000930005.1",
"protein_id": "ENSP00000600064.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 292,
"cds_start": 767,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930005.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.749G>C",
"hgvs_p": "p.Gly250Ala",
"transcript": "ENST00000930009.1",
"protein_id": "ENSP00000600068.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 286,
"cds_start": 749,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930009.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Gly187Ala",
"transcript": "ENST00000399852.3",
"protein_id": "ENSP00000382745.3",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 223,
"cds_start": 560,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399852.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "HDHD5",
"gene_hgnc_id": 1843,
"hgvs_c": "c.956G>C",
"hgvs_p": "p.Gly319Ala",
"transcript": "XM_011546126.4",
"protein_id": "XP_011544428.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 355,
"cds_start": 956,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011546126.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
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{
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{
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{
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],
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"gene_symbol": "HDHD5",
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"biotype": "retained_intron",
"feature": "ENST00000486462.1"
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],
"gene_symbol": "HDHD5",
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"dbsnp": "rs200356314",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5931973457336426,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.341,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.296,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033070.3",
"gene_symbol": "HDHD5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}