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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: 19-3576988-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3576988&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3576988,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006339.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Glu",
"transcript": "NM_006339.3",
"protein_id": "NP_006330.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333651.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006339.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Glu",
"transcript": "ENST00000333651.11",
"protein_id": "ENSP00000328269.6",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006339.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333651.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.1602C>A",
"hgvs_p": null,
"transcript": "ENST00000488973.6",
"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": "ENST00000488973.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Glu",
"transcript": "ENST00000888792.1",
"protein_id": "ENSP00000558851.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888792.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Glu",
"transcript": "ENST00000963613.1",
"protein_id": "ENSP00000633672.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963613.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Ala229Glu",
"transcript": "ENST00000888790.1",
"protein_id": "ENSP00000558849.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 316,
"cds_start": 686,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888790.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Ala229Glu",
"transcript": "ENST00000888794.1",
"protein_id": "ENSP00000558853.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 316,
"cds_start": 686,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888794.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Ala229Glu",
"transcript": "ENST00000921392.1",
"protein_id": "ENSP00000591451.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 316,
"cds_start": 686,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921392.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.662C>A",
"hgvs_p": "p.Ala221Glu",
"transcript": "ENST00000888798.1",
"protein_id": "ENSP00000558857.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 308,
"cds_start": 662,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888798.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.662C>A",
"hgvs_p": "p.Ala221Glu",
"transcript": "ENST00000888800.1",
"protein_id": "ENSP00000558859.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 308,
"cds_start": 662,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888800.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Ala219Glu",
"transcript": "ENST00000888791.1",
"protein_id": "ENSP00000558850.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 306,
"cds_start": 656,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888791.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ala247Glu",
"transcript": "ENST00000262949.7",
"protein_id": "ENSP00000262949.7",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 285,
"cds_start": 740,
"cds_end": null,
"cds_length": 859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262949.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.581C>A",
"hgvs_p": "p.Ala194Glu",
"transcript": "ENST00000888793.1",
"protein_id": "ENSP00000558852.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 281,
"cds_start": 581,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888793.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.581C>A",
"hgvs_p": "p.Ala194Glu",
"transcript": "ENST00000888799.1",
"protein_id": "ENSP00000558858.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 281,
"cds_start": 581,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888799.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Ala193Glu",
"transcript": "ENST00000888796.1",
"protein_id": "ENSP00000558855.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 280,
"cds_start": 578,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888796.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Ala180Glu",
"transcript": "ENST00000888795.1",
"protein_id": "ENSP00000558854.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 267,
"cds_start": 539,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888795.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.521C>A",
"hgvs_p": "p.Ala174Glu",
"transcript": "ENST00000963615.1",
"protein_id": "ENSP00000633674.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 261,
"cds_start": 521,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963615.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000585900.1",
"protein_id": "ENSP00000465293.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 184,
"cds_start": 107,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585900.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Ala229Glu",
"transcript": "XM_017026144.2",
"protein_id": "XP_016881633.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 316,
"cds_start": 686,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.592+363C>A",
"hgvs_p": null,
"transcript": "ENST00000888797.1",
"protein_id": "ENSP00000558856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.589+363C>A",
"hgvs_p": null,
"transcript": "ENST00000963614.1",
"protein_id": "ENSP00000633673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.104C>A",
"hgvs_p": null,
"transcript": "ENST00000461099.1",
"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": "ENST00000461099.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
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"hgvs_c": "n.847C>A",
"hgvs_p": null,
"transcript": "ENST00000464304.1",
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"transcript_support_level": 2,
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"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": "ENST00000464304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.827C>A",
"hgvs_p": null,
"transcript": "ENST00000487894.5",
"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": "ENST00000487894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.371C>A",
"hgvs_p": null,
"transcript": "ENST00000493191.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000493191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.*44C>A",
"hgvs_p": null,
"transcript": "ENST00000416526.5",
"protein_id": "ENSP00000410924.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.*1C>A",
"hgvs_p": null,
"transcript": "ENST00000483417.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000483417.1"
}
],
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"dbsnp": "rs1202174185",
"frequency_reference_population": 0.000003829041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000353403,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7954171895980835,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.571,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.301,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006339.3",
"gene_symbol": "HMG20B",
"hgnc_id": 5002,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Glu"
}
],
"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
}