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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: 1-1051326-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1051326&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1051326,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198576.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776His",
"transcript": "NM_198576.4",
"protein_id": "NP_940978.2",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2045,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6138,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 7326,
"mane_select": "ENST00000379370.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776His",
"transcript": "ENST00000379370.7",
"protein_id": "ENSP00000368678.2",
"transcript_support_level": 1,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2045,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6138,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 7326,
"mane_select": "NM_198576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5339G>A",
"hgvs_p": "p.Arg1780His",
"transcript": "NM_001305275.2",
"protein_id": "NP_001292204.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5339,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 5392,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5024G>A",
"hgvs_p": "p.Arg1675His",
"transcript": "ENST00000651234.1",
"protein_id": "ENSP00000499046.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1963,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5024G>A",
"hgvs_p": "p.Arg1675His",
"transcript": "NM_001364727.2",
"protein_id": "NP_001351656.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5835,
"cdna_start": 5587,
"cdna_end": null,
"cdna_length": 7533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"transcript": "ENST00000652369.2",
"protein_id": "ENSP00000498543.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 5462,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.4925G>A",
"hgvs_p": "p.Arg1642His",
"transcript": "ENST00000620552.4",
"protein_id": "ENSP00000484607.1",
"transcript_support_level": 5,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1930,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5793,
"cdna_start": 5389,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5339G>A",
"hgvs_p": "p.Arg1780His",
"transcript": "XM_005244749.4",
"protein_id": "XP_005244806.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2049,
"cds_start": 5339,
"cds_end": null,
"cds_length": 6150,
"cdna_start": 5392,
"cdna_end": null,
"cdna_length": 7338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5339G>A",
"hgvs_p": "p.Arg1780His",
"transcript": "XM_011541429.3",
"protein_id": "XP_011539731.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5339,
"cds_end": null,
"cds_length": 6015,
"cdna_start": 5392,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776His",
"transcript": "XM_047419836.1",
"protein_id": "XP_047275792.1",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 6773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.3605G>A",
"hgvs_p": "p.Arg1202His",
"transcript": "XM_047419837.1",
"protein_id": "XP_047275793.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3605,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 4527,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.3605G>A",
"hgvs_p": "p.Arg1202His",
"transcript": "XM_047419838.1",
"protein_id": "XP_047275794.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3605,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"dbsnp": "rs757621899",
"frequency_reference_population": 0.00003251419,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000324761,
"gnomad_genomes_af": 0.0000328688,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8308191299438477,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.679,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.629,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198576.4",
"gene_symbol": "AGRN",
"hgnc_id": 329,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776His"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 8,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myasthenic syndrome 8|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}