← Back to variant description
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: 22-29731317-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29731317&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZMAT5",
"hgnc_id": 28046,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_019103.3",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CABP7",
"hgnc_id": 20834,
"hgvs_c": "c.*1748C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_182527.3",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 24,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0788,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.017025232315063477,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 584,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001003692.2",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344318.4",
"protein_coding": true,
"protein_id": "NP_001003692.1",
"strand": false,
"transcript": "NM_001003692.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 584,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344318.4",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003692.2",
"protein_coding": true,
"protein_id": "ENSP00000344241.3",
"strand": false,
"transcript": "ENST00000344318.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_182527.3",
"gene_hgnc_id": 20834,
"gene_symbol": "CABP7",
"hgvs_c": "c.*1748C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216144.4",
"protein_coding": true,
"protein_id": "NP_872333.1",
"strand": true,
"transcript": "NM_182527.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000216144.4",
"gene_hgnc_id": 20834,
"gene_symbol": "CABP7",
"hgvs_c": "c.*1748C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182527.3",
"protein_coding": true,
"protein_id": "ENSP00000216144.3",
"strand": true,
"transcript": "ENST00000216144.4",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 507,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318129.2",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305058.1",
"strand": false,
"transcript": "NM_001318129.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 699,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_019103.3",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061976.1",
"strand": false,
"transcript": "NM_019103.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 584,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890523.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560583.1",
"strand": false,
"transcript": "ENST00000890523.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 661,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890526.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560586.1",
"strand": false,
"transcript": "ENST00000890526.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 698,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890529.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560588.1",
"strand": false,
"transcript": "ENST00000890529.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 987,
"cdna_start": 626,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890530.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560589.1",
"strand": false,
"transcript": "ENST00000890530.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 491,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890531.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560590.1",
"strand": false,
"transcript": "ENST00000890531.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 594,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890533.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560593.1",
"strand": false,
"transcript": "ENST00000890533.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 604,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890536.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560597.1",
"strand": false,
"transcript": "ENST00000890536.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": 923,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000890540.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560599.1",
"strand": false,
"transcript": "ENST00000890540.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": 555,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890542.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560601.1",
"strand": false,
"transcript": "ENST00000890542.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 646,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890544.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560605.1",
"strand": false,
"transcript": "ENST00000890544.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 641,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890548.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560608.1",
"strand": false,
"transcript": "ENST00000890548.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1003,
"cdna_start": 646,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890551.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560610.1",
"strand": false,
"transcript": "ENST00000890551.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": 621,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890552.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560611.1",
"strand": false,
"transcript": "ENST00000890552.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": 591,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890554.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560613.1",
"strand": false,
"transcript": "ENST00000890554.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890556.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560615.1",
"strand": false,
"transcript": "ENST00000890556.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890558.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560616.1",
"strand": false,
"transcript": "ENST00000890558.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": 573,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000922635.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592694.1",
"strand": false,
"transcript": "ENST00000922635.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": 556,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000922638.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592697.1",
"strand": false,
"transcript": "ENST00000922638.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": 660,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000922639.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592698.1",
"strand": false,
"transcript": "ENST00000922639.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1238,
"cdna_start": 878,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952498.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622557.1",
"strand": false,
"transcript": "ENST00000952498.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 170,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 565,
"cds_end": null,
"cds_length": 513,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952500.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622559.1",
"strand": false,
"transcript": "ENST00000952500.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 168,
"aa_ref": "V",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 860,
"cdna_start": 500,
"cds_end": null,
"cds_length": 507,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952497.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Val139Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622556.1",
"strand": false,
"transcript": "ENST00000952497.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 149,
"aa_ref": "V",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": 431,
"cds_end": null,
"cds_length": 450,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952499.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622558.1",
"strand": false,
"transcript": "ENST00000952499.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 143,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": 430,
"cds_end": null,
"cds_length": 432,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922634.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592693.1",
"strand": false,
"transcript": "ENST00000922634.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 143,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": 476,
"cds_end": null,
"cds_length": 432,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922637.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592696.1",
"strand": false,
"transcript": "ENST00000922637.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "V",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 419,
"cds_end": null,
"cds_length": 369,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922636.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592695.1",
"strand": false,
"transcript": "ENST00000922636.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": null,
"cds_end": null,
"cds_length": 636,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952608.1",
"gene_hgnc_id": 20834,
"gene_symbol": "CABP7",
"hgvs_c": "c.*1748C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622667.1",
"strand": true,
"transcript": "ENST00000952608.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs765805169",
"effect": "missense_variant",
"frequency_reference_population": 0.000015672324,
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000159502,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131522,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.373,
"pos": 29731317,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.021,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_019103.3"
}
]
}