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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: 6-153026517-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=153026517&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 153026517,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012419.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Gly49Ala",
"transcript": "NM_012419.5",
"protein_id": "NP_036551.3",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 210,
"cds_start": 146,
"cds_end": null,
"cds_length": 633,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": "ENST00000206262.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Gly49Ala",
"transcript": "ENST00000206262.2",
"protein_id": "ENSP00000206262.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 210,
"cds_start": 146,
"cds_end": null,
"cds_length": 633,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": "NM_012419.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Gly49Ala",
"transcript": "ENST00000367225.6",
"protein_id": "ENSP00000356194.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 210,
"cds_start": 146,
"cds_end": null,
"cds_length": 633,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 7773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "XM_047418634.1",
"protein_id": "XP_047274590.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 225,
"cds_start": 191,
"cds_end": null,
"cds_length": 678,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Gly60Ala",
"transcript": "XM_047418635.1",
"protein_id": "XP_047274591.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 221,
"cds_start": 179,
"cds_end": null,
"cds_length": 666,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 8340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Gly49Ala",
"transcript": "XM_047418636.1",
"protein_id": "XP_047274592.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 210,
"cds_start": 146,
"cds_end": null,
"cds_length": 633,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 8196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RGS17",
"gene_hgnc_id": 14088,
"dbsnp": "rs1562314621",
"frequency_reference_population": 6.8447486e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84475e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16213306784629822,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.977,
"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": "NM_012419.5",
"gene_symbol": "RGS17",
"hgnc_id": 14088,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Gly49Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}