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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: 19-17811986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17811986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "B3GNT3",
"hgnc_id": 13528,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014256.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 1222582,
"alphamissense_prediction": null,
"alphamissense_score": 0.0698,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000001214041958519374,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014256.4",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318683.7",
"protein_coding": true,
"protein_id": "NP_055071.2",
"strand": true,
"transcript": "NM_014256.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000318683.7",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014256.4",
"protein_coding": true,
"protein_id": "ENSP00000321874.5",
"strand": true,
"transcript": "ENST00000318683.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000595387.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472638.1",
"strand": true,
"transcript": "ENST00000595387.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858455.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528514.1",
"strand": true,
"transcript": "ENST00000858455.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858457.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528516.1",
"strand": true,
"transcript": "ENST00000858457.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929613.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599672.1",
"strand": true,
"transcript": "ENST00000929613.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944332.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614391.1",
"strand": true,
"transcript": "ENST00000944332.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1011,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858456.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528515.1",
"strand": true,
"transcript": "ENST00000858456.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011527626.3",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525928.1",
"strand": true,
"transcript": "XM_011527626.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5401,
"cdna_start": 3811,
"cds_end": null,
"cds_length": 1119,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047438042.1",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293998.1",
"strand": true,
"transcript": "XM_047438042.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599265.5",
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"hgvs_c": "c.*233G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471733.1",
"strand": true,
"transcript": "ENST00000599265.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs36686",
"effect": "missense_variant",
"frequency_reference_population": 0.76239264,
"gene_hgnc_id": 13528,
"gene_symbol": "B3GNT3",
"gnomad_exomes_ac": 1101909,
"gnomad_exomes_af": 0.759209,
"gnomad_exomes_homalt": 420312,
"gnomad_genomes_ac": 120673,
"gnomad_genomes_af": 0.792743,
"gnomad_genomes_homalt": 48333,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 468645,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.36,
"pos": 17811986,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.024,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014256.4"
}
]
}