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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44353825&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FAM171A2",
"hgnc_id": 30480,
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.Leu797Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_198475.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "L",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2389,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_198475.3",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.Leu797Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293443.12",
"protein_coding": true,
"protein_id": "NP_940877.2",
"strand": false,
"transcript": "NM_198475.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "L",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2389,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000293443.12",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.Leu797Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198475.3",
"protein_coding": true,
"protein_id": "ENSP00000293443.6",
"strand": false,
"transcript": "ENST00000293443.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2425,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000912944.1",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2425C>T",
"hgvs_p": "p.Leu809Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583003.1",
"strand": false,
"transcript": "ENST00000912944.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 835,
"aa_ref": "L",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2416,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000912945.1",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Leu806Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583004.1",
"strand": false,
"transcript": "ENST00000912945.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 828,
"aa_ref": "L",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2487,
"cds_start": 2395,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000912942.1",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.Leu799Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583001.1",
"strand": false,
"transcript": "ENST00000912942.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 789,
"aa_ref": "L",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2370,
"cds_start": 2278,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946728.1",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Leu760Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616787.1",
"strand": false,
"transcript": "ENST00000946728.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 719,
"aa_ref": "L",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2068,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000912943.1",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.2068C>T",
"hgvs_p": "p.Leu690Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583002.1",
"strand": false,
"transcript": "ENST00000912943.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "L",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1837,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017024490.2",
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Leu613Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879979.1",
"strand": false,
"transcript": "XM_017024490.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1452193327",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000006628311,
"gene_hgnc_id": 30480,
"gene_symbol": "FAM171A2",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000662831,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.684,
"pos": 44353825,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_198475.3"
}
]
}