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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: 4-48341908-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48341908&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48341908,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020846.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "NM_020846.2",
"protein_id": "NP_065897.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 581,
"cds_start": 169,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 6081,
"mane_select": "ENST00000264313.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020846.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000264313.11",
"protein_id": "ENSP00000264313.5",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 581,
"cds_start": 169,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 6081,
"mane_select": "NM_020846.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264313.11"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000512093.6",
"protein_id": "ENSP00000425923.2",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 607,
"cds_start": 169,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512093.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000942830.1",
"protein_id": "ENSP00000612889.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 554,
"cds_start": 169,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942830.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000888698.1",
"protein_id": "ENSP00000558757.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 526,
"cds_start": 169,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888698.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000942829.1",
"protein_id": "ENSP00000612888.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 499,
"cds_start": 169,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942829.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "ENST00000917426.1",
"protein_id": "ENSP00000587485.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 473,
"cds_start": 169,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917426.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala",
"transcript": "XM_005248121.4",
"protein_id": "XP_005248178.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 607,
"cds_start": 169,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248121.4"
}
],
"gene_symbol": "SLAIN2",
"gene_hgnc_id": 29282,
"dbsnp": "rs929716801",
"frequency_reference_population": 7.3723044e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.3723e-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": 0.14362117648124695,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0571,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.373,
"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_020846.2",
"gene_symbol": "SLAIN2",
"hgnc_id": 29282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Pro57Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}