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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: 1-119033112-GCT-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119033112&ref=GCT&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "WARS2",
"hgnc_id": 12730,
"hgvs_c": "c.880_882delAGCinsCGT",
"hgvs_p": "p.Ser294Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015836.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1083,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015836.4",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.880_882delAGCinsCGT",
"hgvs_p": "p.Ser294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000235521.5",
"protein_coding": true,
"protein_id": "NP_056651.1",
"strand": false,
"transcript": "NM_015836.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1083,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000235521.5",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.880_882delAGCinsCGT",
"hgvs_p": "p.Ser294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015836.4",
"protein_coding": true,
"protein_id": "ENSP00000235521.4",
"strand": false,
"transcript": "ENST00000235521.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 220,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369426.9",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.*246_*248delAGCinsCGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358434.5",
"strand": false,
"transcript": "ENST00000369426.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "S",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1146,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928547.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.943_945delAGCinsCGT",
"hgvs_p": "p.Ser315Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598606.1",
"strand": false,
"transcript": "ENST00000928547.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1026,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900323.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.823_825delAGCinsCGT",
"hgvs_p": "p.Ser275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570382.1",
"strand": false,
"transcript": "ENST00000900323.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1014,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378226.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.811_813delAGCinsCGT",
"hgvs_p": "p.Ser271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365155.1",
"strand": false,
"transcript": "NM_001378226.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1014,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378227.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.811_813delAGCinsCGT",
"hgvs_p": "p.Ser271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365156.1",
"strand": false,
"transcript": "NM_001378227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 720,
"cds_end": null,
"cds_length": 912,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378228.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.709_711delAGCinsCGT",
"hgvs_p": "p.Ser237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365157.1",
"strand": false,
"transcript": "NM_001378228.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 740,
"cds_end": null,
"cds_length": 912,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900322.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.709_711delAGCinsCGT",
"hgvs_p": "p.Ser237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570381.1",
"strand": false,
"transcript": "ENST00000900322.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 284,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 657,
"cds_end": null,
"cds_length": 855,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900325.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.652_654delAGCinsCGT",
"hgvs_p": "p.Ser218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570384.1",
"strand": false,
"transcript": "ENST00000900325.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 633,
"cds_end": null,
"cds_length": 825,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378229.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.622_624delAGCinsCGT",
"hgvs_p": "p.Ser208Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365158.1",
"strand": false,
"transcript": "NM_001378229.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 645,
"cds_end": null,
"cds_length": 825,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900324.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.622_624delAGCinsCGT",
"hgvs_p": "p.Ser208Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570383.1",
"strand": false,
"transcript": "ENST00000900324.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 266,
"aa_ref": "S",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 801,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378230.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.598_600delAGCinsCGT",
"hgvs_p": "p.Ser200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365159.1",
"strand": false,
"transcript": "NM_001378230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 342,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1029,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005270350.4",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.826_828delAGCinsCGT",
"hgvs_p": "p.Ser276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270407.1",
"strand": false,
"transcript": "XM_005270350.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1026,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000038.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.823_825delAGCinsCGT",
"hgvs_p": "p.Ser275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855527.1",
"strand": false,
"transcript": "XM_017000038.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1014,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449826.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.811_813delAGCinsCGT",
"hgvs_p": "p.Ser271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305594.1",
"strand": false,
"transcript": "XM_024449826.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 284,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 682,
"cds_end": null,
"cds_length": 855,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047429105.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.652_654delAGCinsCGT",
"hgvs_p": "p.Ser218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285061.1",
"strand": false,
"transcript": "XM_047429105.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 266,
"aa_ref": "S",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 801,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449860.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.598_600delAGCinsCGT",
"hgvs_p": "p.Ser200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305628.1",
"strand": false,
"transcript": "XM_024449860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 220,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_201263.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.*246_*248delAGCinsCGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_957715.1",
"strand": false,
"transcript": "NM_201263.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378231.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.*215_*217delAGCinsCGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365160.1",
"strand": false,
"transcript": "NM_001378231.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 621,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000495746.5",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "n.*183_*185delAGCinsCGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}