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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: 22-19353500-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19353500&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19353500,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003325.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly",
"transcript": "NM_003325.4",
"protein_id": "NP_003316.3",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263208.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003325.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly",
"transcript": "ENST00000263208.5",
"protein_id": "ENSP00000263208.5",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003325.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263208.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000340170.8",
"protein_id": "ENSP00000345350.4",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 810,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340170.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2854C>G",
"hgvs_p": "p.Arg952Gly",
"transcript": "ENST00000935861.1",
"protein_id": "ENSP00000605920.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935861.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Arg919Gly",
"transcript": "ENST00000935865.1",
"protein_id": "ENSP00000605924.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935865.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2629C>G",
"hgvs_p": "p.Arg877Gly",
"transcript": "ENST00000935869.1",
"protein_id": "ENSP00000605928.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 992,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935869.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2590C>G",
"hgvs_p": "p.Arg864Gly",
"transcript": "ENST00000935870.1",
"protein_id": "ENSP00000605929.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 979,
"cds_start": 2590,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935870.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2542C>G",
"hgvs_p": "p.Arg848Gly",
"transcript": "ENST00000935868.1",
"protein_id": "ENSP00000605927.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 963,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935868.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2518C>G",
"hgvs_p": "p.Arg840Gly",
"transcript": "ENST00000935866.1",
"protein_id": "ENSP00000605925.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 955,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935866.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2506C>G",
"hgvs_p": "p.Arg836Gly",
"transcript": "ENST00000935863.1",
"protein_id": "ENSP00000605922.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 951,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935863.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2344C>G",
"hgvs_p": "p.Arg782Gly",
"transcript": "ENST00000935864.1",
"protein_id": "ENSP00000605923.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 897,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935864.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2344C>G",
"hgvs_p": "p.Arg782Gly",
"transcript": "ENST00000935867.1",
"protein_id": "ENSP00000605926.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 897,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935867.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Arg640Gly",
"transcript": "ENST00000935862.1",
"protein_id": "ENSP00000605921.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 755,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf39",
"gene_hgnc_id": 27012,
"hgvs_c": "n.*2474C>G",
"hgvs_p": null,
"transcript": "ENST00000509549.5",
"protein_id": "ENSP00000424903.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509549.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf39",
"gene_hgnc_id": 27012,
"hgvs_c": "n.*2474C>G",
"hgvs_p": null,
"transcript": "ENST00000509549.5",
"protein_id": "ENSP00000424903.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509549.5"
}
],
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"dbsnp": "rs782416995",
"frequency_reference_population": 6.859548e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85955e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8725888729095459,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.608,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.296,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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_003325.4",
"gene_symbol": "HIRA",
"hgnc_id": 4916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000509549.5",
"gene_symbol": "C22orf39",
"hgnc_id": 27012,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2474C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}