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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: 6-117301093-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117301093&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 117301093,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001378902.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6596G>C",
"hgvs_p": "p.Arg2199Thr",
"transcript": "NM_001378902.1",
"protein_id": "NP_001365831.1",
"transcript_support_level": null,
"aa_start": 2199,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6596,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6882,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "ENST00000368507.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6596G>C",
"hgvs_p": "p.Arg2199Thr",
"transcript": "ENST00000368507.8",
"protein_id": "ENSP00000357493.3",
"transcript_support_level": 5,
"aa_start": 2199,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6596,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6882,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "NM_001378902.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6614G>C",
"hgvs_p": "p.Arg2205Thr",
"transcript": "ENST00000368508.7",
"protein_id": "ENSP00000357494.3",
"transcript_support_level": 1,
"aa_start": 2205,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6614,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6813,
"cdna_end": null,
"cdna_length": 7435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6614G>C",
"hgvs_p": "p.Arg2205Thr",
"transcript": "NM_002944.3",
"protein_id": "NP_002935.2",
"transcript_support_level": null,
"aa_start": 2205,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6614,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6900,
"cdna_end": null,
"cdna_length": 8469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6602G>C",
"hgvs_p": "p.Arg2201Thr",
"transcript": "NM_001378891.1",
"protein_id": "NP_001365820.1",
"transcript_support_level": null,
"aa_start": 2201,
"aa_end": null,
"aa_length": 2343,
"cds_start": 6602,
"cds_end": null,
"cds_length": 7032,
"cdna_start": 6888,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6644G>C",
"hgvs_p": "p.Arg2215Thr",
"transcript": "XM_011536049.3",
"protein_id": "XP_011534351.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 2357,
"cds_start": 6644,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 6930,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6641G>C",
"hgvs_p": "p.Arg2214Thr",
"transcript": "XM_011536050.3",
"protein_id": "XP_011534352.1",
"transcript_support_level": null,
"aa_start": 2214,
"aa_end": null,
"aa_length": 2356,
"cds_start": 6641,
"cds_end": null,
"cds_length": 7071,
"cdna_start": 6927,
"cdna_end": null,
"cdna_length": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6617G>C",
"hgvs_p": "p.Arg2206Thr",
"transcript": "XM_011536051.3",
"protein_id": "XP_011534353.1",
"transcript_support_level": null,
"aa_start": 2206,
"aa_end": null,
"aa_length": 2348,
"cds_start": 6617,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 6903,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6599G>C",
"hgvs_p": "p.Arg2200Thr",
"transcript": "XM_006715548.5",
"protein_id": "XP_006715611.1",
"transcript_support_level": null,
"aa_start": 2200,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6599,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6885,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6575G>C",
"hgvs_p": "p.Arg2192Thr",
"transcript": "XM_017011172.2",
"protein_id": "XP_016866661.1",
"transcript_support_level": null,
"aa_start": 2192,
"aa_end": null,
"aa_length": 2334,
"cds_start": 6575,
"cds_end": null,
"cds_length": 7005,
"cdna_start": 6861,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6572G>C",
"hgvs_p": "p.Arg2191Thr",
"transcript": "XM_017011173.2",
"protein_id": "XP_016866662.1",
"transcript_support_level": null,
"aa_start": 2191,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6572,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 6858,
"cdna_end": null,
"cdna_length": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6470G>C",
"hgvs_p": "p.Arg2157Thr",
"transcript": "XM_011536053.3",
"protein_id": "XP_011534355.1",
"transcript_support_level": null,
"aa_start": 2157,
"aa_end": null,
"aa_length": 2299,
"cds_start": 6470,
"cds_end": null,
"cds_length": 6900,
"cdna_start": 6756,
"cdna_end": null,
"cdna_length": 8325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6599+7701G>C",
"hgvs_p": null,
"transcript": "XM_011536054.3",
"protein_id": "XP_011534356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2200,
"cds_start": -4,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"dbsnp": "rs145104466",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9724780321121216,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.28,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001378902.1",
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6596G>C",
"hgvs_p": "p.Arg2199Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}