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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: 12-6872492-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6872492&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6872492,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032641.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_032641.4",
"protein_id": "NP_116030.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524270.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032641.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000524270.6",
"protein_id": "ENSP00000428338.1",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032641.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524270.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000523102.5",
"protein_id": "ENSP00000430872.1",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523102.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000519357.1",
"protein_id": "ENSP00000431037.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 267,
"cds_start": 410,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519357.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_001146316.2",
"protein_id": "NP_001139788.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146316.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_001319670.2",
"protein_id": "NP_001306599.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319670.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000890095.1",
"protein_id": "ENSP00000560154.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890095.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000890096.1",
"protein_id": "ENSP00000560155.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890096.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000890097.1",
"protein_id": "ENSP00000560156.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890097.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000934904.1",
"protein_id": "ENSP00000604963.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 263,
"cds_start": 410,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934904.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000934905.1",
"protein_id": "ENSP00000604964.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 199,
"cds_start": 410,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934905.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000934907.1",
"protein_id": "ENSP00000604966.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 199,
"cds_start": 410,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934907.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000934908.1",
"protein_id": "ENSP00000604967.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 199,
"cds_start": 410,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.238+172G>A",
"hgvs_p": null,
"transcript": "ENST00000934906.1",
"protein_id": "ENSP00000604965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.238+172G>A",
"hgvs_p": null,
"transcript": "ENST00000934909.1",
"protein_id": "ENSP00000604968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.238+172G>A",
"hgvs_p": null,
"transcript": "ENST00000957755.1",
"protein_id": "ENSP00000627814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.238+172G>A",
"hgvs_p": null,
"transcript": "ENST00000957756.1",
"protein_id": "ENSP00000627815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"hgvs_c": "c.*163G>A",
"hgvs_p": null,
"transcript": "ENST00000432205.5",
"protein_id": "ENSP00000428458.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": null,
"cds_end": null,
"cds_length": 247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432205.5"
}
],
"gene_symbol": "SPSB2",
"gene_hgnc_id": 29522,
"dbsnp": "rs143198615",
"frequency_reference_population": 0.000006846333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684633,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7109054327011108,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.1431,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.939,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032641.4",
"gene_symbol": "SPSB2",
"hgnc_id": 29522,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}