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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: 14-103732640-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103732640&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103732640,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198953.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_024071.4",
"protein_id": "NP_076976.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 234,
"cds_start": 547,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311141.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024071.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000311141.7",
"protein_id": "ENSP00000310543.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 234,
"cds_start": 547,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311141.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "n.3649G>C",
"hgvs_p": null,
"transcript": "ENST00000555501.1",
"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": "retained_intron",
"feature": "ENST00000555501.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000944811.1",
"protein_id": "ENSP00000614870.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 305,
"cds_start": 760,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944811.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.697G>C",
"hgvs_p": "p.Gly233Arg",
"transcript": "ENST00000892139.1",
"protein_id": "ENSP00000562198.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 284,
"cds_start": 697,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892139.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Gly227Arg",
"transcript": "ENST00000944812.1",
"protein_id": "ENSP00000614871.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 278,
"cds_start": 679,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944812.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Gly209Arg",
"transcript": "ENST00000892137.1",
"protein_id": "ENSP00000562196.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 260,
"cds_start": 625,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892137.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Gly201Arg",
"transcript": "NM_001198953.2",
"protein_id": "NP_001185882.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 252,
"cds_start": 601,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198953.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Gly201Arg",
"transcript": "ENST00000216602.10",
"protein_id": "ENSP00000216602.6",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 252,
"cds_start": 601,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216602.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"transcript": "ENST00000892140.1",
"protein_id": "ENSP00000562199.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 251,
"cds_start": 598,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892140.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"transcript": "ENST00000935733.1",
"protein_id": "ENSP00000605792.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 251,
"cds_start": 598,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935733.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Gly201Arg",
"transcript": "ENST00000935732.1",
"protein_id": "ENSP00000605791.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 249,
"cds_start": 601,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935732.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "ENST00000944813.1",
"protein_id": "ENSP00000614872.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 240,
"cds_start": 565,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944813.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.562G>C",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000944814.1",
"protein_id": "ENSP00000614873.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 239,
"cds_start": 562,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944814.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Gly182Arg",
"transcript": "ENST00000892135.1",
"protein_id": "ENSP00000562194.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 233,
"cds_start": 544,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892135.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Gly182Arg",
"transcript": "ENST00000892138.1",
"protein_id": "ENSP00000562197.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 233,
"cds_start": 544,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892138.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Gly166Arg",
"transcript": "ENST00000935735.1",
"protein_id": "ENSP00000605794.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 496,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935735.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Gly151Arg",
"transcript": "ENST00000892136.1",
"protein_id": "ENSP00000562195.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 202,
"cds_start": 451,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "c.139-343G>C",
"hgvs_p": null,
"transcript": "ENST00000935734.1",
"protein_id": "ENSP00000605793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZFYVE21",
"gene_hgnc_id": 20760,
"hgvs_c": "n.1210G>C",
"hgvs_p": null,
"transcript": "ENST00000554757.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000554757.1"
}
],
"gene_symbol": "ZFYVE21",
"gene_hgnc_id": 20760,
"dbsnp": "rs1344867677",
"frequency_reference_population": 0.000019701845,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000197018,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9227555990219116,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.432,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198953.2",
"gene_symbol": "ZFYVE21",
"hgnc_id": 20760,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Gly201Arg"
}
],
"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
}