← 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: 12-57498563-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57498563&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004990.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 9,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7123,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2U,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9558203220367432,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 900,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004990.4",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262027.10",
"protein_coding": true,
"protein_id": "NP_004981.2",
"strand": true,
"transcript": "NM_004990.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 900,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000262027.10",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004990.4",
"protein_coding": true,
"protein_id": "ENSP00000262027.5",
"strand": true,
"transcript": "ENST00000262027.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 941,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948582.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618641.1",
"strand": true,
"transcript": "ENST00000948582.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 934,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948584.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618643.1",
"strand": true,
"transcript": "ENST00000948584.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 925,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948583.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618642.1",
"strand": true,
"transcript": "ENST00000948583.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 914,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916094.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586153.1",
"strand": true,
"transcript": "ENST00000916094.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 899,
"aa_ref": "Y",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906525.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Tyr343Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576584.1",
"strand": true,
"transcript": "ENST00000906525.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 899,
"aa_ref": "Y",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906528.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Tyr343Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576587.1",
"strand": true,
"transcript": "ENST00000906528.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 899,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906530.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576589.1",
"strand": true,
"transcript": "ENST00000906530.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 898,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916098.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586157.1",
"strand": true,
"transcript": "ENST00000916098.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916097.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586156.1",
"strand": true,
"transcript": "ENST00000916097.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 868,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906526.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576585.1",
"strand": true,
"transcript": "ENST00000906526.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 868,
"aa_ref": "Y",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916095.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Tyr343Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586154.1",
"strand": true,
"transcript": "ENST00000916095.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 865,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916099.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586158.1",
"strand": true,
"transcript": "ENST00000916099.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 855,
"aa_ref": "Y",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 916,
"cds_end": null,
"cds_length": 2568,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906529.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Tyr299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576588.1",
"strand": true,
"transcript": "ENST00000906529.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 823,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916096.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586155.1",
"strand": true,
"transcript": "ENST00000916096.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 818,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906527.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576586.1",
"strand": true,
"transcript": "ENST00000906527.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 231,
"aa_ref": "Y",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 699,
"cdna_start": 529,
"cds_end": null,
"cds_length": 697,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000552371.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Tyr176Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447914.1",
"strand": true,
"transcript": "ENST00000552371.1",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 666,
"aa_ref": "Y",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2001,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428851.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.329A>G",
"hgvs_p": "p.Tyr110Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284807.1",
"strand": true,
"transcript": "XM_047428851.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 546,
"aa_ref": "Y",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047428852.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Tyr344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284808.1",
"strand": true,
"transcript": "XM_047428852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000628866.2",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.*532A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486738.1",
"strand": true,
"transcript": "ENST00000628866.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000447721.6",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.673A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000447721.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000537638.6",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.1031A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446168.2",
"strand": true,
"transcript": "ENST00000537638.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545888.6",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.*532A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439307.2",
"strand": true,
"transcript": "ENST00000545888.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000551892.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.*396A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450018.1",
"strand": true,
"transcript": "ENST00000551892.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545888.6",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.*532A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439307.2",
"strand": true,
"transcript": "ENST00000545888.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000551892.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "n.*396A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450018.1",
"strand": true,
"transcript": "ENST00000551892.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs766466297",
"effect": "missense_variant",
"frequency_reference_population": 0.0000061564137,
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000615641,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency|Charcot-Marie-Tooth disease axonal type 2U;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.798,
"pos": 57498563,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.917,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004990.4"
}
]
}