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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: 20-32985813-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32985813&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32985813,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_080675.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "NM_080675.4",
"protein_id": "NP_542406.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 379,
"cds_start": 820,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": "ENST00000356173.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "ENST00000356173.8",
"protein_id": "ENSP00000348496.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 379,
"cds_start": 820,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": "NM_080675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Leu249Phe",
"transcript": "ENST00000375523.7",
"protein_id": "ENSP00000364673.3",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 354,
"cds_start": 745,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Phe",
"transcript": "XM_011528573.2",
"protein_id": "XP_011526875.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 402,
"cds_start": 889,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Leu249Phe",
"transcript": "XM_011528574.2",
"protein_id": "XP_011526876.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 354,
"cds_start": 745,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Leu184Phe",
"transcript": "XM_011528575.2",
"protein_id": "XP_011526877.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 289,
"cds_start": 550,
"cds_end": null,
"cds_length": 870,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUN5",
"gene_hgnc_id": 16252,
"dbsnp": "rs1210556782",
"frequency_reference_population": 0.0000013681332,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21167516708374023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.3053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.202,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 2,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080675.4",
"gene_symbol": "SUN5",
"hgnc_id": 16252,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe"
}
],
"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
}