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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: 1-119140608-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119140608&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PS1_Moderate",
"PM2",
"PM5",
"PP5_Moderate",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WARS2",
"hgnc_id": 12730,
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 7,
"transcript": "NM_015836.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"PP5_Moderate",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "WARS2-AS1",
"hgnc_id": 40612,
"hgvs_c": "n.213A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 3,
"transcript": "ENST00000425884.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Moderate,PM2,PM5,PP5_Moderate,BP4",
"acmg_score": 7,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.272,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "1",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " mitochondrial, with abnormal movements and lactic acidosis, with or without seizures,Neurodevelopmental disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08689004182815552,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 46,
"cds_end": null,
"cds_length": 1083,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015836.4",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 46,
"cds_end": null,
"cds_length": 1083,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000235521.5",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 41,
"cds_end": null,
"cds_length": 663,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000369426.9",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000425884.7",
"gene_hgnc_id": 40612,
"gene_symbol": "WARS2-AS1",
"hgvs_c": "n.213A>T",
"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": "ENST00000425884.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000440150.5",
"gene_hgnc_id": 40612,
"gene_symbol": "WARS2-AS1",
"hgvs_c": "n.184A>T",
"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": "ENST00000440150.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 64,
"cds_end": null,
"cds_length": 1146,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928547.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 44,
"cds_end": null,
"cds_length": 1026,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900323.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": 303,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 46,
"cds_end": null,
"cds_length": 912,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378228.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 66,
"cds_end": null,
"cds_length": 912,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900322.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 40,
"cds_end": null,
"cds_length": 855,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900325.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 46,
"cds_end": null,
"cds_length": 825,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378229.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 58,
"cds_end": null,
"cds_length": 825,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900324.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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
},
{
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"aa_length": 220,
"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 65,
"cds_end": null,
"cds_length": 663,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_201263.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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": "R",
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"aa_length": 192,
"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 46,
"cds_end": null,
"cds_length": 579,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378231.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"intron_rank": null,
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"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": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1026,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017000038.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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",
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"aa_length": 284,
"aa_ref": "W",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 65,
"cds_end": null,
"cds_length": 855,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047429105.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.37T>A",
"hgvs_p": "p.Trp13Arg",
"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
},
{
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"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378226.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.-118T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365155.1",
"strand": false,
"transcript": "NM_001378226.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378227.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.-309T>A",
"hgvs_p": null,
"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": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": null,
"cds_end": null,
"cds_length": 801,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001378230.1",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.-437T>A",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_024449826.2",
"gene_hgnc_id": 12730,
"gene_symbol": "WARS2",
"hgvs_c": "c.-405T>A",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": null,
"cds_end": null,
"cds_length": 801,
"cds_start": null,
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