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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: 1-78650220-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78650220&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 78650220,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000370747.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "NM_006417.5",
"protein_id": "NP_006408.3",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 444,
"cds_start": 25,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": "ENST00000370747.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "ENST00000370747.9",
"protein_id": "ENSP00000359783.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 444,
"cds_start": 25,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": "NM_006417.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_011540516.4",
"protein_id": "XP_011538818.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 457,
"cds_start": 25,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_047433600.1",
"protein_id": "XP_047289556.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 396,
"cds_start": 25,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_047433620.1",
"protein_id": "XP_047289576.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 390,
"cds_start": 25,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_047433638.1",
"protein_id": "XP_047289594.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 390,
"cds_start": 25,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_017000083.3",
"protein_id": "XP_016855572.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 372,
"cds_start": 25,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_047433671.1",
"protein_id": "XP_047289627.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 352,
"cds_start": 25,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg",
"transcript": "XM_047433700.1",
"protein_id": "XP_047289656.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 350,
"cds_start": 25,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1198,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.99T>A",
"hgvs_p": null,
"transcript": "ENST00000467790.5",
"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": 1066,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.152T>A",
"hgvs_p": null,
"transcript": "NR_135641.1",
"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": 1628,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "c.-28+315T>A",
"hgvs_p": null,
"transcript": "ENST00000438486.1",
"protein_id": "ENSP00000399477.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.110+315T>A",
"hgvs_p": null,
"transcript": "ENST00000470323.5",
"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": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.48+315T>A",
"hgvs_p": null,
"transcript": "ENST00000472152.5",
"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": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.73+315T>A",
"hgvs_p": null,
"transcript": "ENST00000495254.5",
"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": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"hgvs_c": "n.117+315T>A",
"hgvs_p": null,
"transcript": "NR_135640.1",
"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": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFI44",
"gene_hgnc_id": 16938,
"dbsnp": "rs2070123",
"frequency_reference_population": 0.0000024910912,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000206376,
"gnomad_genomes_af": 0.00000657609,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2074192464351654,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.4723,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.134,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370747.9",
"gene_symbol": "IFI44",
"hgnc_id": 16938,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25T>A",
"hgvs_p": "p.Trp9Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}