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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: 18-47130253-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47130253&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 47130253,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032124.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "NM_032124.5",
"protein_id": "NP_115500.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300605.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032124.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000300605.11",
"protein_id": "ENSP00000300605.4",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032124.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300605.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "n.*258A>C",
"hgvs_p": null,
"transcript": "ENST00000588183.5",
"protein_id": "ENSP00000466602.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000588183.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "n.*258A>C",
"hgvs_p": null,
"transcript": "ENST00000588183.5",
"protein_id": "ENSP00000466602.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000588183.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000851063.1",
"protein_id": "ENSP00000521128.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 288,
"cds_start": 386,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851063.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.419A>C",
"hgvs_p": "p.Gln140Pro",
"transcript": "ENST00000964285.1",
"protein_id": "ENSP00000634344.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 270,
"cds_start": 419,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964285.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884163.1",
"protein_id": "ENSP00000554223.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884163.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884167.1",
"protein_id": "ENSP00000554226.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884167.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884168.1",
"protein_id": "ENSP00000554227.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884168.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884169.1",
"protein_id": "ENSP00000554228.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884169.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884170.1",
"protein_id": "ENSP00000554229.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884170.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884171.1",
"protein_id": "ENSP00000554230.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884171.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884172.1",
"protein_id": "ENSP00000554231.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884172.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884173.1",
"protein_id": "ENSP00000554232.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884173.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884174.1",
"protein_id": "ENSP00000554233.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884174.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884175.1",
"protein_id": "ENSP00000554234.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884175.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884176.1",
"protein_id": "ENSP00000554235.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884176.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884177.1",
"protein_id": "ENSP00000554236.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884177.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000884178.1",
"protein_id": "ENSP00000554237.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884178.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000927329.1",
"protein_id": "ENSP00000597388.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927329.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000927330.1",
"protein_id": "ENSP00000597389.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927330.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "HDHD2",
"gene_hgnc_id": 25364,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro",
"transcript": "ENST00000927332.1",
"protein_id": "ENSP00000597391.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 259,
"cds_start": 386,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927332.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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{
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{
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{
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{
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],
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{
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],
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},
{
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],
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"gene_symbol": "HDHD2",
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{
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"intron_variant"
],
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"gene_symbol": "HDHD2",
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"biotype": "pseudogene",
"feature": "ENST00000587841.5"
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],
"gene_symbol": "HDHD2",
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"dbsnp": "rs2063700285",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.295801043510437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.6455,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.436,
"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_032124.5",
"gene_symbol": "HDHD2",
"hgnc_id": 25364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Gln129Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000602459.6",
"gene_symbol": "ENSG00000267228",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*364A>C",
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}
],
"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
}