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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: 12-133227082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=133227082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 133227082,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001372060.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "NM_001372060.1",
"protein_id": "NP_001358989.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 483,
"cds_start": 572,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000545940.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372060.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000545940.6",
"protein_id": "ENSP00000439513.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 483,
"cds_start": 572,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372060.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545940.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "NM_001191054.1",
"protein_id": "NP_001177983.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 379,
"cds_start": 572,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191054.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000419717.3",
"protein_id": "ENSP00000409950.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 379,
"cds_start": 572,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419717.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12His",
"transcript": "ENST00000673940.1",
"protein_id": "ENSP00000501263.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 35,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673940.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_006719743.5",
"protein_id": "XP_006719806.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 492,
"cds_start": 572,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719743.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011534818.3",
"protein_id": "XP_011533120.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 492,
"cds_start": 572,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534818.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011534822.4",
"protein_id": "XP_011533124.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 336,
"cds_start": 572,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534822.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011534823.3",
"protein_id": "XP_011533125.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 331,
"cds_start": 572,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534823.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011534824.3",
"protein_id": "XP_011533126.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 331,
"cds_start": 572,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534824.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011534825.3",
"protein_id": "XP_011533127.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 322,
"cds_start": 572,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534825.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"hgvs_c": "n.665G>A",
"hgvs_p": null,
"transcript": "XR_941396.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_941396.3"
}
],
"gene_symbol": "ANHX",
"gene_hgnc_id": 40024,
"dbsnp": "rs762774820",
"frequency_reference_population": 0.00015756296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 242,
"gnomad_exomes_af": 0.000166938,
"gnomad_genomes_af": 0.000072299,
"gnomad_exomes_ac": 231,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8558035492897034,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.653,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3526,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.71,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001372060.1",
"gene_symbol": "ANHX",
"hgnc_id": 40024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His"
}
],
"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
}