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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: 10-104314772-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104314772&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104314772,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033397.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "NM_001272013.2",
"protein_id": "NP_001258942.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337478.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272013.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000337478.3",
"protein_id": "ENSP00000337178.1",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001272013.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337478.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000278071.6",
"protein_id": "ENSP00000278071.2",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278071.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "NM_001272012.2",
"protein_id": "NP_001258941.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272012.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "NM_033397.4",
"protein_id": "NP_203755.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033397.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000358187.2",
"protein_id": "ENSP00000350915.2",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358187.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000647721.1",
"protein_id": "ENSP00000497746.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647721.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000877295.1",
"protein_id": "ENSP00000547354.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877295.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000877296.1",
"protein_id": "ENSP00000547355.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877296.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000877297.1",
"protein_id": "ENSP00000547356.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877297.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000877298.1",
"protein_id": "ENSP00000547357.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877298.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000877299.1",
"protein_id": "ENSP00000547358.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877299.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000913746.1",
"protein_id": "ENSP00000583805.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913746.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000941388.1",
"protein_id": "ENSP00000611447.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941388.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"transcript": "ENST00000941389.1",
"protein_id": "ENSP00000611448.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 547,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941389.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Gly432Glu",
"transcript": "XM_005270257.3",
"protein_id": "XP_005270314.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 552,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270257.3"
},
{
"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": "ITPRIP-AS1",
"gene_hgnc_id": 54100,
"hgvs_c": "n.69-8572C>T",
"hgvs_p": null,
"transcript": "ENST00000772612.1",
"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": "ENST00000772612.1"
}
],
"gene_symbol": "ITPRIP",
"gene_hgnc_id": 29370,
"dbsnp": "rs753725839",
"frequency_reference_population": 0.00008055451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.0000793645,
"gnomad_genomes_af": 0.0000919818,
"gnomad_exomes_ac": 116,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.048771440982818604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.1733,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.714,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_033397.4",
"gene_symbol": "ITPRIP",
"hgnc_id": 29370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000772612.1",
"gene_symbol": "ITPRIP-AS1",
"hgnc_id": 54100,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-8572C>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
}