← Back to variant description
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: 1-21857382-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21857382&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21857382,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374695.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5297C>T",
"hgvs_p": "p.Ala1766Val",
"transcript": "NM_005529.7",
"protein_id": "NP_005520.4",
"transcript_support_level": null,
"aa_start": 1766,
"aa_end": null,
"aa_length": 4391,
"cds_start": 5297,
"cds_end": null,
"cds_length": 13176,
"cdna_start": 5390,
"cdna_end": null,
"cdna_length": 14341,
"mane_select": "ENST00000374695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5297C>T",
"hgvs_p": "p.Ala1766Val",
"transcript": "ENST00000374695.8",
"protein_id": "ENSP00000363827.3",
"transcript_support_level": 1,
"aa_start": 1766,
"aa_end": null,
"aa_length": 4391,
"cds_start": 5297,
"cds_end": null,
"cds_length": 13176,
"cdna_start": 5390,
"cdna_end": null,
"cdna_length": 14341,
"mane_select": "NM_005529.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5300C>T",
"hgvs_p": "p.Ala1767Val",
"transcript": "NM_001291860.2",
"protein_id": "NP_001278789.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 4392,
"cds_start": 5300,
"cds_end": null,
"cds_length": 13179,
"cdna_start": 5393,
"cdna_end": null,
"cdna_length": 14344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5846C>T",
"hgvs_p": "p.Ala1949Val",
"transcript": "XM_011541318.3",
"protein_id": "XP_011539620.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 4574,
"cds_start": 5846,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 5939,
"cdna_end": null,
"cdna_length": 14890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5795C>T",
"hgvs_p": "p.Ala1932Val",
"transcript": "XM_047419080.1",
"protein_id": "XP_047275036.1",
"transcript_support_level": null,
"aa_start": 1932,
"aa_end": null,
"aa_length": 4557,
"cds_start": 5795,
"cds_end": null,
"cds_length": 13674,
"cdna_start": 5888,
"cdna_end": null,
"cdna_length": 14839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5792C>T",
"hgvs_p": "p.Ala1931Val",
"transcript": "XM_047419090.1",
"protein_id": "XP_047275046.1",
"transcript_support_level": null,
"aa_start": 1931,
"aa_end": null,
"aa_length": 4556,
"cds_start": 5792,
"cds_end": null,
"cds_length": 13671,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 14836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5492C>T",
"hgvs_p": "p.Ala1831Val",
"transcript": "XM_017001120.1",
"protein_id": "XP_016856609.1",
"transcript_support_level": null,
"aa_start": 1831,
"aa_end": null,
"aa_length": 4456,
"cds_start": 5492,
"cds_end": null,
"cds_length": 13371,
"cdna_start": 5507,
"cdna_end": null,
"cdna_length": 14458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5489C>T",
"hgvs_p": "p.Ala1830Val",
"transcript": "XM_047419091.1",
"protein_id": "XP_047275047.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 4455,
"cds_start": 5489,
"cds_end": null,
"cds_length": 13368,
"cdna_start": 5504,
"cdna_end": null,
"cdna_length": 14455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5441C>T",
"hgvs_p": "p.Ala1814Val",
"transcript": "XM_017001121.1",
"protein_id": "XP_016856610.1",
"transcript_support_level": null,
"aa_start": 1814,
"aa_end": null,
"aa_length": 4439,
"cds_start": 5441,
"cds_end": null,
"cds_length": 13320,
"cdna_start": 5456,
"cdna_end": null,
"cdna_length": 14407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"hgvs_c": "c.5438C>T",
"hgvs_p": "p.Ala1813Val",
"transcript": "XM_017001122.1",
"protein_id": "XP_016856611.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 4438,
"cds_start": 5438,
"cds_end": null,
"cds_length": 13317,
"cdna_start": 5453,
"cdna_end": null,
"cdna_length": 14404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSPG2",
"gene_hgnc_id": 5273,
"dbsnp": "rs139794766",
"frequency_reference_population": 0.0004642042,
"hom_count_reference_population": 1,
"allele_count_reference_population": 749,
"gnomad_exomes_af": 0.000478358,
"gnomad_genomes_af": 0.000328377,
"gnomad_exomes_ac": 699,
"gnomad_genomes_ac": 50,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011281132698059082,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0841,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.387,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM5,BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM5",
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000374695.8",
"gene_symbol": "HSPG2",
"hgnc_id": 5273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5297C>T",
"hgvs_p": "p.Ala1766Val"
}
],
"clinvar_disease": "Connective tissue disorder,HSPG2-related disorder,Lethal Kniest-like syndrome,Schwartz-Jampel syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4",
"phenotype_combined": "Schwartz-Jampel syndrome|not specified|Lethal Kniest-like syndrome|Connective tissue disorder|not provided|HSPG2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}