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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: 17-17992834-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17992834&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17992834,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031294.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "NM_031294.4",
"protein_id": "NP_112584.3",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399187.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031294.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000399187.6",
"protein_id": "ENSP00000382140.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031294.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399187.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000399182.5",
"protein_id": "ENSP00000382136.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 457,
"cds_start": 514,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399182.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000584166.5",
"protein_id": "ENSP00000462661.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 457,
"cds_start": 514,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584166.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.70G>A",
"hgvs_p": null,
"transcript": "ENST00000583171.5",
"protein_id": "ENSP00000464101.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000583171.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887428.1",
"protein_id": "ENSP00000557487.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 542,
"cds_start": 514,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887428.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887430.1",
"protein_id": "ENSP00000557489.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 542,
"cds_start": 514,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887430.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887438.1",
"protein_id": "ENSP00000557497.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 542,
"cds_start": 514,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887438.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887440.1",
"protein_id": "ENSP00000557499.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 542,
"cds_start": 514,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887440.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000887427.1",
"protein_id": "ENSP00000557486.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 539,
"cds_start": 562,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887427.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000887441.1",
"protein_id": "ENSP00000557500.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 539,
"cds_start": 562,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887441.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "NM_001130090.1",
"protein_id": "NP_001123562.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130090.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887426.1",
"protein_id": "ENSP00000557485.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887426.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887429.1",
"protein_id": "ENSP00000557488.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887429.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887432.1",
"protein_id": "ENSP00000557491.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887432.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887434.1",
"protein_id": "ENSP00000557493.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887434.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887436.1",
"protein_id": "ENSP00000557495.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887436.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000887439.1",
"protein_id": "ENSP00000557498.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887439.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000946685.1",
"protein_id": "ENSP00000616744.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946685.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000946686.1",
"protein_id": "ENSP00000616745.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946686.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000946687.1",
"protein_id": "ENSP00000616746.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946687.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000946690.1",
"protein_id": "ENSP00000616749.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.-319G>A",
"hgvs_p": null,
"transcript": "XM_011524026.3",
"protein_id": "XP_011522328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524026.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.-20G>A",
"hgvs_p": null,
"transcript": "ENST00000577202.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000577202.1"
}
],
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"dbsnp": "rs2043293232",
"frequency_reference_population": 0.000003098089,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273655,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30961713194847107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.427,
"phylop100way_prediction": "Pathogenic",
"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_031294.4",
"gene_symbol": "DRC3",
"hgnc_id": 25384,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000584205.5",
"gene_symbol": "ATPAF2",
"hgnc_id": 18802,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*34-3242C>T",
"hgvs_p": null
}
],
"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
}