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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: 3-122741065-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122741065&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122741065,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024610.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "NM_024610.6",
"protein_id": "NP_078886.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 488,
"cds_start": 874,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306103.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024610.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "ENST00000306103.3",
"protein_id": "ENSP00000302562.2",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 488,
"cds_start": 874,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024610.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306103.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "n.712G>C",
"hgvs_p": null,
"transcript": "ENST00000471534.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471534.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "ENST00000936102.1",
"protein_id": "ENSP00000606161.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 492,
"cds_start": 886,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936102.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Val264Leu",
"transcript": "NM_001320728.2",
"protein_id": "NP_001307657.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 460,
"cds_start": 790,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320728.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Val264Leu",
"transcript": "ENST00000877417.1",
"protein_id": "ENSP00000547476.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 460,
"cds_start": 790,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877417.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Val234Leu",
"transcript": "ENST00000971052.1",
"protein_id": "ENSP00000641111.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 430,
"cds_start": 700,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971052.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Val230Leu",
"transcript": "ENST00000877414.1",
"protein_id": "ENSP00000547473.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 426,
"cds_start": 688,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877414.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Val202Leu",
"transcript": "ENST00000877415.1",
"protein_id": "ENSP00000547474.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 398,
"cds_start": 604,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877415.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Val189Leu",
"transcript": "ENST00000936101.1",
"protein_id": "ENSP00000606160.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 385,
"cds_start": 565,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936101.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Val161Leu",
"transcript": "ENST00000936099.1",
"protein_id": "ENSP00000606158.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 357,
"cds_start": 481,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936099.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.295G>C",
"hgvs_p": "p.Val99Leu",
"transcript": "ENST00000936100.1",
"protein_id": "ENSP00000606159.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 295,
"cds_start": 295,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936100.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Val255Leu",
"transcript": "XM_047448918.1",
"protein_id": "XP_047304874.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 451,
"cds_start": 763,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448918.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Val230Leu",
"transcript": "XM_017007179.2",
"protein_id": "XP_016862668.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 426,
"cds_start": 688,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007179.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Val202Leu",
"transcript": "XM_047448919.1",
"protein_id": "XP_047304875.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 398,
"cds_start": 604,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448919.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"hgvs_c": "c.826-190G>C",
"hgvs_p": null,
"transcript": "ENST00000877416.1",
"protein_id": "ENSP00000547475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877416.1"
}
],
"gene_symbol": "HSPBAP1",
"gene_hgnc_id": 16389,
"dbsnp": null,
"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": 0.4014438986778259,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.4548,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.148,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024610.6",
"gene_symbol": "HSPBAP1",
"hgnc_id": 16389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}