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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: 7-899087-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=899087&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 899087,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001284308.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Val348Leu",
"transcript": "NM_006869.4",
"protein_id": "NP_006860.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 374,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265846.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006869.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Val348Leu",
"transcript": "ENST00000265846.10",
"protein_id": "ENSP00000265846.5",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 374,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006869.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265846.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1075G>T",
"hgvs_p": "p.Val359Leu",
"transcript": "NM_001284308.2",
"protein_id": "NP_001271237.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 385,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284308.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1075G>T",
"hgvs_p": "p.Val359Leu",
"transcript": "ENST00000539900.5",
"protein_id": "ENSP00000442682.1",
"transcript_support_level": 2,
"aa_start": 359,
"aa_end": null,
"aa_length": 385,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539900.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "ENST00000943017.1",
"protein_id": "ENSP00000613076.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 380,
"cds_start": 1060,
"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": "ENST00000943017.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "ENST00000943018.1",
"protein_id": "ENSP00000613077.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 380,
"cds_start": 1060,
"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": "ENST00000943018.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Val347Leu",
"transcript": "ENST00000649206.1",
"protein_id": "ENSP00000497220.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 373,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649206.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.988G>T",
"hgvs_p": "p.Val330Leu",
"transcript": "ENST00000446141.5",
"protein_id": "ENSP00000414436.1",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 356,
"cds_start": 988,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446141.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.988G>T",
"hgvs_p": "p.Val330Leu",
"transcript": "ENST00000943015.1",
"protein_id": "ENSP00000613074.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 356,
"cds_start": 988,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943015.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.988G>T",
"hgvs_p": "p.Val330Leu",
"transcript": "ENST00000943016.1",
"protein_id": "ENSP00000613075.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 356,
"cds_start": 988,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943016.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Val327Leu",
"transcript": "ENST00000943014.1",
"protein_id": "ENSP00000613073.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 353,
"cds_start": 979,
"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": "ENST00000943014.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Val299Leu",
"transcript": "ENST00000943019.1",
"protein_id": "ENSP00000613078.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 325,
"cds_start": 895,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943019.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"transcript": "NM_001284309.2",
"protein_id": "NP_001271238.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 826,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284309.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"transcript": "NM_001284310.2",
"protein_id": "NP_001271239.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 826,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284310.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"transcript": "ENST00000449296.6",
"protein_id": "ENSP00000407267.2",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 826,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449296.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"transcript": "ENST00000611167.4",
"protein_id": "ENSP00000481154.1",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 826,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611167.4"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Val253Leu",
"transcript": "NM_001284311.2",
"protein_id": "NP_001271240.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 279,
"cds_start": 757,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284311.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Val253Leu",
"transcript": "ENST00000617043.4",
"protein_id": "ENSP00000478011.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 279,
"cds_start": 757,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617043.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Val246Leu",
"transcript": "ENST00000876359.1",
"protein_id": "ENSP00000546418.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 272,
"cds_start": 736,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876359.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.655G>T",
"hgvs_p": "p.Val219Leu",
"transcript": "ENST00000453175.6",
"protein_id": "ENSP00000409129.2",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 245,
"cds_start": 655,
"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": "ENST00000453175.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX19",
"gene_hgnc_id": 28074,
"hgvs_c": "n.*785G>T",
"hgvs_p": null,
"transcript": "ENST00000457254.5",
"protein_id": "ENSP00000413423.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000457254.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "n.1098G>T",
"hgvs_p": null,
"transcript": "ENST00000478000.5",
"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": "retained_intron",
"feature": "ENST00000478000.5"
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{
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"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
"feature": "ENST00000495809.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "COX19",
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"transcript": "ENST00000457254.5",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "ADAP1",
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"dbsnp": "rs774777035",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86867e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08937981724739075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.612,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001284308.2",
"gene_symbol": "ADAP1",
"hgnc_id": 16486,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1075G>T",
"hgvs_p": "p.Val359Leu"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457254.5",
"gene_symbol": "COX19",
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"effects": [
"non_coding_transcript_exon_variant"
],
"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
}