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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: 22-17473581-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17473581&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17473581,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001290047.2",
"consequences": [
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "NM_001290047.2",
"protein_id": "NP_001276976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": "ENST00000262608.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "ENST00000262608.13",
"protein_id": "ENSP00000262608.11",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": "NM_001290047.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.-363-4007A>G",
"hgvs_p": null,
"transcript": "ENST00000400585.7",
"protein_id": "ENSP00000383428.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.-1097A>G",
"hgvs_p": null,
"transcript": "XM_024452234.2",
"protein_id": "XP_024308002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1426,
"cds_start": -4,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.-1097A>G",
"hgvs_p": null,
"transcript": "XM_047441344.1",
"protein_id": "XP_047297300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "ENST00000342247.10",
"protein_id": "ENSP00000341219.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": -4,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.-363-4007A>G",
"hgvs_p": null,
"transcript": "NM_001290046.2",
"protein_id": "NP_001276975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "n.269-4007A>G",
"hgvs_p": null,
"transcript": "ENST00000497534.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_017028785.2",
"protein_id": "XP_016884274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": -4,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_011546128.3",
"protein_id": "XP_011544430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1436,
"cds_start": -4,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_011546129.3",
"protein_id": "XP_011544431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1436,
"cds_start": -4,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_011546132.3",
"protein_id": "XP_011544434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1409,
"cds_start": -4,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_047441341.1",
"protein_id": "XP_047297297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": -4,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_047441342.1",
"protein_id": "XP_047297298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": -4,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_047441343.1",
"protein_id": "XP_047297299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": -4,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.127-4007A>G",
"hgvs_p": null,
"transcript": "XM_047441345.1",
"protein_id": "XP_047297301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"dbsnp": "rs2097596",
"frequency_reference_population": 0.000006570907,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.454,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001290047.2",
"gene_symbol": "CECR2",
"hgnc_id": 1840,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.127-4007A>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
}