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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: 1-168239147-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=168239147&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 168239147,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_199344.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Ile144Leu",
"transcript": "NM_199344.3",
"protein_id": "NP_955376.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 430,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271375.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199344.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Ile144Leu",
"transcript": "ENST00000271375.7",
"protein_id": "ENSP00000271375.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 430,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199344.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271375.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"transcript": "ENST00000873660.1",
"protein_id": "ENSP00000543719.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 148,
"cds_start": 394,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873660.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.262A>C",
"hgvs_p": "p.Ile88Leu",
"transcript": "ENST00000873663.1",
"protein_id": "ENSP00000543722.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 104,
"cds_start": 262,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873663.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Ile85Leu",
"transcript": "ENST00000873662.1",
"protein_id": "ENSP00000543721.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 101,
"cds_start": 253,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873662.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.139A>C",
"hgvs_p": "p.Ile47Leu",
"transcript": "ENST00000873661.1",
"protein_id": "ENSP00000543720.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 63,
"cds_start": 139,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.*21A>C",
"hgvs_p": null,
"transcript": "ENST00000367829.5",
"protein_id": "ENSP00000356803.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367829.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"hgvs_c": "c.*21A>C",
"hgvs_p": null,
"transcript": "ENST00000630869.1",
"protein_id": "ENSP00000486492.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630869.1"
}
],
"gene_symbol": "SFT2D2",
"gene_hgnc_id": 25140,
"dbsnp": "rs1230578116",
"frequency_reference_population": 0.0000027483816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274838,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.865562915802002,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4711,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.281,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199344.3",
"gene_symbol": "SFT2D2",
"hgnc_id": 25140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Ile144Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}