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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: 17-44353825-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44353825&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44353825,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198475.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2389C>G",
"hgvs_p": "p.Leu797Val",
"transcript": "NM_198475.3",
"protein_id": "NP_940877.2",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 826,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293443.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198475.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2389C>G",
"hgvs_p": "p.Leu797Val",
"transcript": "ENST00000293443.12",
"protein_id": "ENSP00000293443.6",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 826,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198475.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293443.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2425C>G",
"hgvs_p": "p.Leu809Val",
"transcript": "ENST00000912944.1",
"protein_id": "ENSP00000583003.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 838,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912944.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2416C>G",
"hgvs_p": "p.Leu806Val",
"transcript": "ENST00000912945.1",
"protein_id": "ENSP00000583004.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 835,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912945.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2395C>G",
"hgvs_p": "p.Leu799Val",
"transcript": "ENST00000912942.1",
"protein_id": "ENSP00000583001.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 828,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912942.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2278C>G",
"hgvs_p": "p.Leu760Val",
"transcript": "ENST00000946728.1",
"protein_id": "ENSP00000616787.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 789,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946728.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.2068C>G",
"hgvs_p": "p.Leu690Val",
"transcript": "ENST00000912943.1",
"protein_id": "ENSP00000583002.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 719,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912943.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "XM_017024490.2",
"protein_id": "XP_016879979.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 642,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024490.2"
}
],
"gene_symbol": "FAM171A2",
"gene_hgnc_id": 30480,
"dbsnp": "rs1452193327",
"frequency_reference_population": 0.000053436306,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000574225,
"gnomad_genomes_af": 0.0000198707,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0741531252861023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0902,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.684,
"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_198475.3",
"gene_symbol": "FAM171A2",
"hgnc_id": 30480,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2389C>G",
"hgvs_p": "p.Leu797Val"
}
],
"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
}