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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: 3-49256176-CTT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49256176&ref=CTT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IHO1",
"hgnc_id": 27945,
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_178173.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135197.2",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000452691.7",
"protein_coding": true,
"protein_id": "NP_001128669.1",
"strand": true,
"transcript": "NM_001135197.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452691.7",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135197.2",
"protein_coding": true,
"protein_id": "ENSP00000407837.2",
"strand": true,
"transcript": "ENST00000452691.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296449.9",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296449.5",
"strand": true,
"transcript": "ENST00000296449.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178173.4",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_835467.2",
"strand": true,
"transcript": "NM_178173.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438782.5",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391788.1",
"strand": true,
"transcript": "ENST00000438782.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909984.1",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580043.1",
"strand": true,
"transcript": "ENST00000909984.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961111.1",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631170.1",
"strand": true,
"transcript": "ENST00000961111.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 601,
"aa_ref": "L",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1806,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533670.3",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.700_702delCTTinsTTC",
"hgvs_p": "p.Leu234Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531972.1",
"strand": true,
"transcript": "XM_011533670.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 599,
"aa_ref": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1800,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533671.3",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.694_696delCTTinsTTC",
"hgvs_p": "p.Leu232Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531973.1",
"strand": true,
"transcript": "XM_011533671.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713124.4",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713187.1",
"strand": true,
"transcript": "XM_006713124.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533672.3",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531974.1",
"strand": true,
"transcript": "XM_011533672.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533673.3",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531975.1",
"strand": true,
"transcript": "XM_011533673.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1785,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448068.1",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.679_681delCTTinsTTC",
"hgvs_p": "p.Leu227Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304024.1",
"strand": true,
"transcript": "XM_047448068.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 396,
"aa_ref": "L",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1191,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448069.1",
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"hgvs_c": "c.85_87delCTTinsTTC",
"hgvs_p": "p.Leu29Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304025.1",
"strand": true,
"transcript": "XM_047448069.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 27945,
"gene_symbol": "IHO1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.06,
"pos": 49256176,
"ref": "CTT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_178173.4"
}
]
}