← Back to variant description
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: 16-24562046-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=24562046&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 24562046,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006910.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala",
"transcript": "NM_006910.5",
"protein_id": "NP_008841.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1174,
"cds_end": null,
"cds_length": 5379,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": "ENST00000319715.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala",
"transcript": "ENST00000319715.10",
"protein_id": "ENSP00000317872.4",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1174,
"cds_end": null,
"cds_length": 5379,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": "NM_006910.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala",
"transcript": "ENST00000348022.6",
"protein_id": "ENSP00000316291.4",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1758,
"cds_start": 1174,
"cds_end": null,
"cds_length": 5277,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala",
"transcript": "ENST00000381039.7",
"protein_id": "ENSP00000370427.3",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 952,
"cds_start": 1174,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3384,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "n.1964T>G",
"hgvs_p": null,
"transcript": "ENST00000562430.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 6482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Ser430Ala",
"transcript": "ENST00000646282.1",
"protein_id": "ENSP00000496720.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 1758,
"cds_start": 1288,
"cds_end": null,
"cds_length": 5279,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala",
"transcript": "NM_018703.4",
"protein_id": "NP_061173.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1758,
"cds_start": 1174,
"cds_end": null,
"cds_length": 5277,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"hgvs_c": "c.775T>G",
"hgvs_p": "p.Ser259Ala",
"transcript": "ENST00000564314.5",
"protein_id": "ENSP00000456750.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 1007,
"cds_start": 775,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBBP6",
"gene_hgnc_id": 9889,
"dbsnp": "rs1179155136",
"frequency_reference_population": 6.8468484e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84685e-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": 0.10870778560638428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.758,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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_006910.5",
"gene_symbol": "RBBP6",
"hgnc_id": 9889,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1174T>G",
"hgvs_p": "p.Ser392Ala"
}
],
"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
}