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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: 19-35526706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35526706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SBSN",
"hgnc_id": 24950,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Glu526Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001166034.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.3266,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25061509013175964,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 590,
"aa_ref": "E",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001166034.2",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Glu526Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000452271.7",
"protein_coding": true,
"protein_id": "NP_001159506.1",
"strand": false,
"transcript": "NM_001166034.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 590,
"aa_ref": "E",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000452271.7",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Glu526Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001166034.2",
"protein_coding": true,
"protein_id": "ENSP00000430242.1",
"strand": false,
"transcript": "ENST00000452271.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": 617,
"cds_end": null,
"cds_length": 744,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000518157.1",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Glu183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428771.1",
"strand": false,
"transcript": "ENST00000518157.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": 577,
"cds_end": null,
"cds_length": 744,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_198538.4",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Glu183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940940.1",
"strand": false,
"transcript": "NM_198538.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 572,
"aa_ref": "E",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011526929.3",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Glu508Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525231.1",
"strand": false,
"transcript": "XM_011526929.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 572,
"aa_ref": "E",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011526930.3",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Glu508Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525232.1",
"strand": false,
"transcript": "XM_011526930.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 554,
"aa_ref": "E",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011526931.3",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Glu490Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525233.1",
"strand": false,
"transcript": "XM_011526931.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 169,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 683,
"cdna_start": null,
"cds_end": null,
"cds_length": 510,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001166035.2",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.375+1201G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159507.1",
"strand": false,
"transcript": "NM_001166035.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 593,
"cdna_start": null,
"cds_end": null,
"cds_length": 450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588674.5",
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"hgvs_c": "c.315+1201G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468646.2",
"strand": false,
"transcript": "ENST00000588674.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs776745094",
"effect": "missense_variant",
"frequency_reference_population": 0.0000030986,
"gene_hgnc_id": 24950,
"gene_symbol": "SBSN",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136816,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197602,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.852,
"pos": 35526706,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.179,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001166034.2"
}
]
}