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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: 21-33436926-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33436926&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33436926,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000290219.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Pro326Pro",
"transcript": "NM_005534.4",
"protein_id": "NP_005525.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 337,
"cds_start": 978,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "ENST00000290219.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Pro326Pro",
"transcript": "ENST00000290219.11",
"protein_id": "ENSP00000290219.5",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 337,
"cds_start": 978,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "NM_005534.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "n.*2120+2288C>T",
"hgvs_p": null,
"transcript": "ENST00000420455.5",
"protein_id": "ENSP00000397773.1",
"transcript_support_level": 1,
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Pro345Pro",
"transcript": "NM_001329128.2",
"protein_id": "NP_001316057.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 356,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Pro345Pro",
"transcript": "ENST00000381995.5",
"protein_id": "ENSP00000371425.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 356,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Pro323Pro",
"transcript": "ENST00000696724.1",
"protein_id": "ENSP00000512835.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 334,
"cds_start": 969,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.741G>A",
"hgvs_p": "p.Pro247Pro",
"transcript": "ENST00000405436.5",
"protein_id": "ENSP00000385044.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 258,
"cds_start": 741,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "n.682C>T",
"hgvs_p": null,
"transcript": "ENST00000468874.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "n.334C>T",
"hgvs_p": null,
"transcript": "ENST00000484377.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*731G>A",
"hgvs_p": null,
"transcript": "ENST00000545369.2",
"protein_id": "ENSP00000442735.2",
"transcript_support_level": 5,
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*731G>A",
"hgvs_p": null,
"transcript": "ENST00000545369.2",
"protein_id": "ENSP00000442735.2",
"transcript_support_level": 5,
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "c.*2187C>T",
"hgvs_p": null,
"transcript": "XM_011529746.3",
"protein_id": "XP_011528048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.174+4055G>A",
"hgvs_p": null,
"transcript": "ENST00000421802.1",
"protein_id": "ENSP00000402629.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "n.359+2288C>T",
"hgvs_p": null,
"transcript": "ENST00000470682.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM50B",
"gene_hgnc_id": 1280,
"hgvs_c": "n.2775+2288C>T",
"hgvs_p": null,
"transcript": "NR_040016.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"dbsnp": "rs17885407",
"frequency_reference_population": 0.0026097528,
"hom_count_reference_population": 12,
"allele_count_reference_population": 4212,
"gnomad_exomes_af": 0.0026966,
"gnomad_genomes_af": 0.00177508,
"gnomad_exomes_ac": 3942,
"gnomad_genomes_ac": 270,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.4300000071525574,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.577,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.43,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000290219.11",
"gene_symbol": "IFNGR2",
"hgnc_id": 5440,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Pro326Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000484377.5",
"gene_symbol": "TMEM50B",
"hgnc_id": 1280,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.334C>T",
"hgvs_p": null
}
],
"clinvar_disease": "IFNGR2-related disorder,Immunodeficiency 28,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Immunodeficiency 28|not provided|IFNGR2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}