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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: 22-17138086-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17138086&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17138086,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033070.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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.1207G>C",
"hgvs_p": "p.Val403Leu",
"transcript": "NM_033070.3",
"protein_id": "NP_149061.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 423,
"cds_start": 1207,
"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": "V",
"aa_alt": "L",
"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.1207G>C",
"hgvs_p": "p.Val403Leu",
"transcript": "ENST00000336737.8",
"protein_id": "ENSP00000337358.4",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 423,
"cds_start": 1207,
"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": "V",
"aa_alt": "L",
"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.1117G>C",
"hgvs_p": "p.Val373Leu",
"transcript": "ENST00000155674.9",
"protein_id": "ENSP00000155674.5",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 393,
"cds_start": 1117,
"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.3050G>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": "V",
"aa_alt": "L",
"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.1291G>C",
"hgvs_p": "p.Val431Leu",
"transcript": "ENST00000895143.1",
"protein_id": "ENSP00000565202.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 451,
"cds_start": 1291,
"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": "V",
"aa_alt": "L",
"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.1288G>C",
"hgvs_p": "p.Val430Leu",
"transcript": "ENST00000930004.1",
"protein_id": "ENSP00000600063.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 450,
"cds_start": 1288,
"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": "V",
"aa_alt": "L",
"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.1252G>C",
"hgvs_p": "p.Val418Leu",
"transcript": "ENST00000895145.1",
"protein_id": "ENSP00000565204.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 438,
"cds_start": 1252,
"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": "V",
"aa_alt": "L",
"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.1240G>C",
"hgvs_p": "p.Val414Leu",
"transcript": "ENST00000930008.1",
"protein_id": "ENSP00000600067.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 434,
"cds_start": 1240,
"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": "V",
"aa_alt": "L",
"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.1201G>C",
"hgvs_p": "p.Val401Leu",
"transcript": "ENST00000930003.1",
"protein_id": "ENSP00000600062.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 421,
"cds_start": 1201,
"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": "V",
"aa_alt": "L",
"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.1192G>C",
"hgvs_p": "p.Val398Leu",
"transcript": "ENST00000895142.1",
"protein_id": "ENSP00000565201.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 418,
"cds_start": 1192,
"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": "V",
"aa_alt": "L",
"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.1141G>C",
"hgvs_p": "p.Val381Leu",
"transcript": "ENST00000969828.1",
"protein_id": "ENSP00000639887.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 401,
"cds_start": 1141,
"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": "V",
"aa_alt": "L",
"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.1117G>C",
"hgvs_p": "p.Val373Leu",
"transcript": "NM_017829.6",
"protein_id": "NP_060299.4",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 393,
"cds_start": 1117,
"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": "V",
"aa_alt": "L",
"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.1087G>C",
"hgvs_p": "p.Val363Leu",
"transcript": "ENST00000895146.1",
"protein_id": "ENSP00000565205.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 383,
"cds_start": 1087,
"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": "V",
"aa_alt": "L",
"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.1078G>C",
"hgvs_p": "p.Val360Leu",
"transcript": "ENST00000895148.1",
"protein_id": "ENSP00000565207.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 380,
"cds_start": 1078,
"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": "V",
"aa_alt": "L",
"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.1018G>C",
"hgvs_p": "p.Val340Leu",
"transcript": "ENST00000930007.1",
"protein_id": "ENSP00000600066.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 360,
"cds_start": 1018,
"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": "V",
"aa_alt": "L",
"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.1003G>C",
"hgvs_p": "p.Val335Leu",
"transcript": "ENST00000895144.1",
"protein_id": "ENSP00000565203.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 355,
"cds_start": 1003,
"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": "V",
"aa_alt": "L",
"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.997G>C",
"hgvs_p": "p.Val333Leu",
"transcript": "ENST00000930006.1",
"protein_id": "ENSP00000600065.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 353,
"cds_start": 997,
"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": "V",
"aa_alt": "L",
"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.988G>C",
"hgvs_p": "p.Val330Leu",
"transcript": "ENST00000895147.1",
"protein_id": "ENSP00000565206.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 350,
"cds_start": 988,
"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": "V",
"aa_alt": "L",
"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.814G>C",
"hgvs_p": "p.Val272Leu",
"transcript": "ENST00000930005.1",
"protein_id": "ENSP00000600064.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 292,
"cds_start": 814,
"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": "V",
"aa_alt": "L",
"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.796G>C",
"hgvs_p": "p.Val266Leu",
"transcript": "ENST00000930009.1",
"protein_id": "ENSP00000600068.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 286,
"cds_start": 796,
"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": "V",
"aa_alt": "L",
"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.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "ENST00000399852.3",
"protein_id": "ENSP00000382745.3",
"transcript_support_level": 3,
"aa_start": 203,
"aa_end": null,
"aa_length": 223,
"cds_start": 607,
"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": "V",
"aa_alt": "L",
"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.1003G>C",
"hgvs_p": "p.Val335Leu",
"transcript": "XM_011546126.4",
"protein_id": "XP_011544428.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 355,
"cds_start": 1003,
"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"
},
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}