← 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: 3-4674222-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4674222&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 4674222,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000443694.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "NM_001378452.1",
"protein_id": "NP_001365381.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2758,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8277,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000649015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "ENST00000649015.2",
"protein_id": "ENSP00000497605.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2758,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8277,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_001378452.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "ENST00000354582.12",
"protein_id": "ENSP00000346595.8",
"transcript_support_level": 5,
"aa_start": 826,
"aa_end": null,
"aa_length": 2750,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8253,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "ENST00000648266.1",
"protein_id": "ENSP00000498014.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2749,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8250,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 9767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "ENST00000650294.1",
"protein_id": "ENSP00000498056.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 2744,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8235,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 9353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "ENST00000443694.5",
"protein_id": "ENSP00000401671.2",
"transcript_support_level": 1,
"aa_start": 811,
"aa_end": null,
"aa_length": 2743,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8232,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "ENST00000648309.1",
"protein_id": "ENSP00000497026.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 2734,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8205,
"cdna_start": 2437,
"cdna_end": null,
"cdna_length": 9311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "ENST00000357086.10",
"protein_id": "ENSP00000349597.4",
"transcript_support_level": 1,
"aa_start": 826,
"aa_end": null,
"aa_length": 2710,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8133,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 9767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "ENST00000456211.8",
"protein_id": "ENSP00000397885.2",
"transcript_support_level": 1,
"aa_start": 811,
"aa_end": null,
"aa_length": 2695,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8088,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 9506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ser105Phe",
"transcript": "ENST00000648038.1",
"protein_id": "ENSP00000497872.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 2012,
"cds_start": 314,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 6998,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.996+20336C>T",
"hgvs_p": null,
"transcript": "ENST00000544951.6",
"protein_id": "ENSP00000440564.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "NM_001168272.2",
"protein_id": "NP_001161744.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 2743,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8232,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 9863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2477C>T",
"hgvs_p": "p.Ser826Phe",
"transcript": "NM_001099952.4",
"protein_id": "NP_001093422.2",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2710,
"cds_start": 2477,
"cds_end": null,
"cds_length": 8133,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 9764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe",
"transcript": "NM_002222.7",
"protein_id": "NP_002213.5",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 2695,
"cds_start": 2432,
"cds_end": null,
"cds_length": 8088,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 9719,
"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": 20,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "n.2477C>T",
"hgvs_p": null,
"transcript": "ENST00000302640.13",
"protein_id": "ENSP00000306253.9",
"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": 9305,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "n.115C>T",
"hgvs_p": null,
"transcript": "ENST00000650146.1",
"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": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"dbsnp": "rs1553686424",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5993801951408386,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.662,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.708,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000443694.5",
"gene_symbol": "ITPR1",
"hgnc_id": 6180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ser811Phe"
}
],
"clinvar_disease": "Atypical behavior,Movement disorder,Progressive gait ataxia,Slurred speech",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Movement disorder;Progressive gait ataxia;Slurred speech;Atypical behavior",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}