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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: 8-56305682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=56305682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDR16C5",
"hgnc_id": 30311,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001318049.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 39,
"alphamissense_prediction": null,
"alphamissense_score": 0.2435,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33404189348220825,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 309,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 882,
"cds_end": null,
"cds_length": 930,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_138969.4",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000303749.8",
"protein_coding": true,
"protein_id": "NP_620419.2",
"strand": false,
"transcript": "NM_138969.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 309,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 882,
"cds_end": null,
"cds_length": 930,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000303749.8",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138969.4",
"protein_coding": true,
"protein_id": "ENSP00000307607.3",
"strand": false,
"transcript": "ENST00000303749.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 265,
"aa_ref": "V",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 750,
"cds_end": null,
"cds_length": 798,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396721.6",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379947.2",
"strand": false,
"transcript": "ENST00000396721.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 318,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 882,
"cds_end": null,
"cds_length": 957,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318049.2",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304978.1",
"strand": false,
"transcript": "NM_001318049.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 318,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 957,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000522671.1",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431010.1",
"strand": false,
"transcript": "ENST00000522671.1",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 309,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 930,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956501.1",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626560.1",
"strand": false,
"transcript": "ENST00000956501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 309,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 851,
"cds_end": null,
"cds_length": 930,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956502.1",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626561.1",
"strand": false,
"transcript": "ENST00000956502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 301,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 810,
"cds_end": null,
"cds_length": 906,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956500.1",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626559.1",
"strand": false,
"transcript": "ENST00000956500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 265,
"aa_ref": "V",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 750,
"cds_end": null,
"cds_length": 798,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318050.2",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304979.1",
"strand": false,
"transcript": "NM_001318050.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956499.1",
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"hgvs_c": "c.710+994G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626558.1",
"strand": false,
"transcript": "ENST00000956499.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754737737",
"effect": "missense_variant",
"frequency_reference_population": 0.00002435588,
"gene_hgnc_id": 30311,
"gene_symbol": "SDR16C5",
"gnomad_exomes_ac": 35,
"gnomad_exomes_af": 0.0000241474,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000263463,
"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": 2.93,
"pos": 56305682,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.385,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001318049.2"
}
]
}