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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: 1-1020183-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1020183&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1020183,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000379370.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "NM_198576.4",
"protein_id": "NP_940978.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2045,
"cds_start": 11,
"cds_end": null,
"cds_length": 6138,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 7326,
"mane_select": "ENST00000379370.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "ENST00000379370.7",
"protein_id": "ENSP00000368678.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 2045,
"cds_start": 11,
"cds_end": null,
"cds_length": 6138,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 7326,
"mane_select": "NM_198576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "NM_001305275.2",
"protein_id": "NP_001292204.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2068,
"cds_start": 11,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "XM_005244749.4",
"protein_id": "XP_005244806.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2049,
"cds_start": 11,
"cds_end": null,
"cds_length": 6150,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 7338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "XM_011541429.3",
"protein_id": "XP_011539731.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2004,
"cds_start": 11,
"cds_end": null,
"cds_length": 6015,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro",
"transcript": "XM_047419836.1",
"protein_id": "XP_047275792.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2000,
"cds_start": 11,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 6773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"hgvs_c": "c.-404G>C",
"hgvs_p": null,
"transcript": "ENST00000620552.4",
"protein_id": "ENSP00000484607.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1930,
"cds_start": -4,
"cds_end": null,
"cds_length": 5793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGRN",
"gene_hgnc_id": 329,
"dbsnp": "rs539283387",
"frequency_reference_population": 0.0022365493,
"hom_count_reference_population": 44,
"allele_count_reference_population": 2982,
"gnomad_exomes_af": 0.000994483,
"gnomad_genomes_af": 0.0119777,
"gnomad_exomes_ac": 1176,
"gnomad_genomes_ac": 1806,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018983781337738037,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.405,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000379370.7",
"gene_symbol": "AGRN",
"hgnc_id": 329,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Pro"
}
],
"clinvar_disease": "AGRN-related disorder,Congenital myasthenic syndrome 8,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Congenital myasthenic syndrome 8|not provided|AGRN-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}