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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: X-84322014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=84322014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 84322014,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_144657.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "NM_001177479.2",
"protein_id": "NP_001170950.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373177.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177479.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000373177.3",
"protein_id": "ENSP00000362272.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001177479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373177.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000297977.9",
"protein_id": "ENSP00000297977.5",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297977.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "NM_144657.5",
"protein_id": "NP_653258.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144657.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000851225.1",
"protein_id": "ENSP00000521284.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851225.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000851226.1",
"protein_id": "ENSP00000521285.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851226.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000933426.1",
"protein_id": "ENSP00000603485.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933426.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000933427.1",
"protein_id": "ENSP00000603486.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933427.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Ala632Thr",
"transcript": "ENST00000851223.1",
"protein_id": "ENSP00000521282.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851223.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Ala632Thr",
"transcript": "ENST00000851224.1",
"protein_id": "ENSP00000521283.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851224.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Ala601Thr",
"transcript": "ENST00000933428.1",
"protein_id": "ENSP00000603487.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 641,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933428.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"transcript": "NM_001177478.2",
"protein_id": "NP_001170949.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 632,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177478.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"transcript": "ENST00000506585.6",
"protein_id": "ENSP00000423670.2",
"transcript_support_level": 2,
"aa_start": 592,
"aa_end": null,
"aa_length": 632,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506585.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000851227.1",
"protein_id": "ENSP00000521286.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 322,
"cds_start": 844,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851227.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "ENST00000951003.1",
"protein_id": "ENSP00000621062.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 273,
"cds_start": 697,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951003.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011530863.3",
"protein_id": "XP_011529165.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530863.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011530864.2",
"protein_id": "XP_011529166.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530864.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_017029274.2",
"protein_id": "XP_016884763.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 690,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029274.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Ala632Thr",
"transcript": "XM_017029275.2",
"protein_id": "XP_016884764.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029275.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Ala632Thr",
"transcript": "XM_047441827.1",
"protein_id": "XP_047297783.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441827.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Ala632Thr",
"transcript": "XM_047441828.1",
"protein_id": "XP_047297784.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
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"hgvs_c": "n.2060G>A",
"hgvs_p": null,
"transcript": "XR_001755652.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001755652.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "n.2006G>A",
"hgvs_p": null,
"transcript": "XR_001755653.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001755653.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"hgvs_c": "n.2169G>A",
"hgvs_p": null,
"transcript": "XR_938392.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_938392.2"
}
],
"gene_symbol": "HDX",
"gene_hgnc_id": 26411,
"dbsnp": "rs1430032313",
"frequency_reference_population": 0.0000038861212,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000388612,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3962549567222595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.699999988079071,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1004,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.963313314097043,
"dbscsnv_ada_prediction": "Pathogenic",
"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_144657.5",
"gene_symbol": "HDX",
"hgnc_id": 26411,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr"
}
],
"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
}