← Back to variant description
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: 22-19355775-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19355775&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19355775,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003325.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu",
"transcript": "NM_003325.4",
"protein_id": "NP_003316.3",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2546,
"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": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu",
"transcript": "ENST00000263208.5",
"protein_id": "ENSP00000263208.5",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2546,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.1925C>T",
"hgvs_p": "p.Pro642Leu",
"transcript": "ENST00000340170.8",
"protein_id": "ENSP00000345350.4",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 810,
"cds_start": 1925,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Pro899Leu",
"transcript": "ENST00000935861.1",
"protein_id": "ENSP00000605920.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2696,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Pro866Leu",
"transcript": "ENST00000935865.1",
"protein_id": "ENSP00000605924.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2597,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2471C>T",
"hgvs_p": "p.Pro824Leu",
"transcript": "ENST00000935869.1",
"protein_id": "ENSP00000605928.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 992,
"cds_start": 2471,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Pro811Leu",
"transcript": "ENST00000935870.1",
"protein_id": "ENSP00000605929.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 979,
"cds_start": 2432,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2384C>T",
"hgvs_p": "p.Pro795Leu",
"transcript": "ENST00000935868.1",
"protein_id": "ENSP00000605927.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 963,
"cds_start": 2384,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2360C>T",
"hgvs_p": "p.Pro787Leu",
"transcript": "ENST00000935866.1",
"protein_id": "ENSP00000605925.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 955,
"cds_start": 2360,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Pro783Leu",
"transcript": "ENST00000935863.1",
"protein_id": "ENSP00000605922.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 951,
"cds_start": 2348,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2186C>T",
"hgvs_p": "p.Pro729Leu",
"transcript": "ENST00000935864.1",
"protein_id": "ENSP00000605923.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 897,
"cds_start": 2186,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.2186C>T",
"hgvs_p": "p.Pro729Leu",
"transcript": "ENST00000935867.1",
"protein_id": "ENSP00000605926.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 897,
"cds_start": 2186,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "HIRA",
"gene_hgnc_id": 4916,
"hgvs_c": "c.1776-1657C>T",
"hgvs_p": null,
"transcript": "ENST00000935862.1",
"protein_id": "ENSP00000605921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "C22orf39",
"gene_hgnc_id": 27012,
"hgvs_c": "n.*2331+455C>T",
"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": "rs140794627",
"frequency_reference_population": 0.0001959561,
"hom_count_reference_population": 0,
"allele_count_reference_population": 316,
"gnomad_exomes_af": 0.000208178,
"gnomad_genomes_af": 0.0000787846,
"gnomad_exomes_ac": 304,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2009314000606537,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.1312,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.662,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003325.4",
"gene_symbol": "HIRA",
"hgnc_id": 4916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000509549.5",
"gene_symbol": "C22orf39",
"hgnc_id": 27012,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2331+455C>T",
"hgvs_p": null
}
],
"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
}