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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: 22-44131613-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44131613&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44131613,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013327.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168Gln",
"transcript": "NM_013327.5",
"protein_id": "NP_037459.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 364,
"cds_start": 503,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": "ENST00000338758.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168Gln",
"transcript": "ENST00000338758.12",
"protein_id": "ENSP00000342492.6",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 364,
"cds_start": 503,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": "NM_013327.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000406477.7",
"protein_id": "ENSP00000384515.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 397,
"cds_start": 602,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "ENST00000404989.1",
"protein_id": "ENSP00000384353.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 327,
"cds_start": 392,
"cds_end": null,
"cds_length": 984,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116Gln",
"transcript": "ENST00000619710.4",
"protein_id": "ENSP00000482511.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 289,
"cds_start": 347,
"cds_end": null,
"cds_length": 870,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "NM_001003828.3",
"protein_id": "NP_001003828.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 397,
"cds_start": 602,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "NM_001243385.2",
"protein_id": "NP_001230314.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 327,
"cds_start": 392,
"cds_end": null,
"cds_length": 984,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116Gln",
"transcript": "NM_001243386.2",
"protein_id": "NP_001230315.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 289,
"cds_start": 347,
"cds_end": null,
"cds_length": 870,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "ENST00000444029.5",
"protein_id": "ENSP00000393758.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 193,
"cds_start": 497,
"cds_end": null,
"cds_length": 583,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Arg186Gln",
"transcript": "XM_024452235.2",
"protein_id": "XP_024308003.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 382,
"cds_start": 557,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "XM_024452236.2",
"protein_id": "XP_024308004.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 374,
"cds_start": 602,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168Gln",
"transcript": "XM_017028792.3",
"protein_id": "XP_016884281.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 341,
"cds_start": 503,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "XM_024452237.2",
"protein_id": "XP_024308005.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 327,
"cds_start": 392,
"cds_end": null,
"cds_length": 984,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "XM_047441349.1",
"protein_id": "XP_047297305.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 327,
"cds_start": 392,
"cds_end": null,
"cds_length": 984,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "XM_047441350.1",
"protein_id": "XP_047297306.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 327,
"cds_start": 392,
"cds_end": null,
"cds_length": 984,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116Gln",
"transcript": "XM_047441351.1",
"protein_id": "XP_047297307.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 312,
"cds_start": 347,
"cds_end": null,
"cds_length": 939,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"dbsnp": "rs550575928",
"frequency_reference_population": 0.000008677424,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000615995,
"gnomad_genomes_af": 0.0000328235,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18455424904823303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.104,
"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_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_013327.5",
"gene_symbol": "PARVB",
"hgnc_id": 14653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}