← 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: 22-19353365-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19353365&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HIRA",
"hgnc_id": 4916,
"hgvs_c": "c.2839G>T",
"hgvs_p": "p.Val947Leu",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_003325.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "C22orf39",
"hgnc_id": 27012,
"hgvs_c": "n.*2609G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000509549.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8596,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9620093107223511,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "V",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_003325.4",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2839G>T",
"hgvs_p": "p.Val947Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263208.5",
"protein_coding": true,
"protein_id": "NP_003316.3",
"strand": false,
"transcript": "NM_003325.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "V",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000263208.5",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2839G>T",
"hgvs_p": "p.Val947Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003325.4",
"protein_coding": true,
"protein_id": "ENSP00000263208.5",
"strand": false,
"transcript": "ENST00000263208.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 810,
"aa_ref": "V",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000340170.8",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2218G>T",
"hgvs_p": "p.Val740Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345350.4",
"strand": false,
"transcript": "ENST00000340170.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "V",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 3204,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935861.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2989G>T",
"hgvs_p": "p.Val997Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605920.1",
"strand": false,
"transcript": "ENST00000935861.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2890,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935865.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2890G>T",
"hgvs_p": "p.Val964Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605924.1",
"strand": false,
"transcript": "ENST00000935865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 992,
"aa_ref": "V",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 2999,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935869.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2764G>T",
"hgvs_p": "p.Val922Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605928.1",
"strand": false,
"transcript": "ENST00000935869.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 979,
"aa_ref": "V",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000935870.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2725G>T",
"hgvs_p": "p.Val909Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605929.1",
"strand": false,
"transcript": "ENST00000935870.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 963,
"aa_ref": "V",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": 2922,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000935868.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2677G>T",
"hgvs_p": "p.Val893Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605927.1",
"strand": false,
"transcript": "ENST00000935868.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 955,
"aa_ref": "V",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2653,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935866.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Val885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605925.1",
"strand": false,
"transcript": "ENST00000935866.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 951,
"aa_ref": "V",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2641,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000935863.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2641G>T",
"hgvs_p": "p.Val881Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605922.1",
"strand": false,
"transcript": "ENST00000935863.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 897,
"aa_ref": "V",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935864.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2479G>T",
"hgvs_p": "p.Val827Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605923.1",
"strand": false,
"transcript": "ENST00000935864.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 897,
"aa_ref": "V",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935867.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2479G>T",
"hgvs_p": "p.Val827Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605926.1",
"strand": false,
"transcript": "ENST00000935867.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "V",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000935862.1",
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Val685Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605921.1",
"strand": false,
"transcript": "ENST00000935862.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000509549.5",
"gene_hgnc_id": 27012,
"gene_symbol": "C22orf39",
"hgvs_c": "n.*2609G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424903.1",
"strand": false,
"transcript": "ENST00000509549.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000509549.5",
"gene_hgnc_id": 27012,
"gene_symbol": "C22orf39",
"hgvs_c": "n.*2609G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424903.1",
"strand": false,
"transcript": "ENST00000509549.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782473677",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4916,
"gene_symbol": "HIRA",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.143,
"pos": 19353365,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.436,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.09000000357627869,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.09,
"transcript": "NM_003325.4"
}
]
}