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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: 12-6872639-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6872639&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPSB2",
"hgnc_id": 29522,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_032641.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.8853,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8722000122070312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 417,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_032641.4",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000524270.6",
"protein_coding": true,
"protein_id": "NP_116030.1",
"strand": false,
"transcript": "NM_032641.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 417,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000524270.6",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032641.4",
"protein_coding": true,
"protein_id": "ENSP00000428338.1",
"strand": false,
"transcript": "ENST00000524270.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 419,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523102.5",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430872.1",
"strand": false,
"transcript": "ENST00000523102.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 267,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 450,
"cds_end": null,
"cds_length": 804,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000519357.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431037.1",
"strand": false,
"transcript": "ENST00000519357.1",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 437,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001146316.2",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139788.1",
"strand": false,
"transcript": "NM_001146316.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 665,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001319670.2",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306599.1",
"strand": false,
"transcript": "NM_001319670.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890095.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560154.1",
"strand": false,
"transcript": "ENST00000890095.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 468,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000890096.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560155.1",
"strand": false,
"transcript": "ENST00000890096.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 458,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000890097.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560156.1",
"strand": false,
"transcript": "ENST00000890097.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 404,
"cds_end": null,
"cds_length": 792,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934904.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604963.1",
"strand": false,
"transcript": "ENST00000934904.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 199,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 463,
"cds_end": null,
"cds_length": 600,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934905.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604964.1",
"strand": false,
"transcript": "ENST00000934905.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 199,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 475,
"cds_end": null,
"cds_length": 600,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934907.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604966.1",
"strand": false,
"transcript": "ENST00000934907.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 199,
"aa_ref": "L",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 664,
"cds_end": null,
"cds_length": 600,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000934908.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Leu88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604967.1",
"strand": false,
"transcript": "ENST00000934908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934906.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.238+25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604965.1",
"strand": false,
"transcript": "ENST00000934906.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934909.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.238+25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604968.1",
"strand": false,
"transcript": "ENST00000934909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957755.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.238+25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627814.1",
"strand": false,
"transcript": "ENST00000957755.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957756.1",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.238+25T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627815.1",
"strand": false,
"transcript": "ENST00000957756.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 81,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 679,
"cdna_start": null,
"cds_end": null,
"cds_length": 247,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432205.5",
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"hgvs_c": "c.*16T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428458.1",
"strand": true,
"transcript": "ENST00000432205.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs370146414",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020559717,
"gene_hgnc_id": 29522,
"gene_symbol": "SPSB2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205597,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Uncertain_significance",
"phylop100way_score": 6.133,
"pos": 6872639,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.428,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_032641.4"
}
]
}