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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: 1-153563852-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153563852&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153563852,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005978.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "NM_005978.4",
"protein_id": "NP_005969.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368708.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005978.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000368708.9",
"protein_id": "ENSP00000357697.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368708.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000487430.7",
"protein_id": "ENSP00000473260.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487430.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000368709.6",
"protein_id": "ENSP00000357698.2",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368709.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000368710.6",
"protein_id": "ENSP00000357699.2",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368710.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000883392.1",
"protein_id": "ENSP00000553451.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883392.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930957.1",
"protein_id": "ENSP00000601016.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930957.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930958.1",
"protein_id": "ENSP00000601017.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930958.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930959.1",
"protein_id": "ENSP00000601018.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930959.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930960.1",
"protein_id": "ENSP00000601019.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930960.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930962.1",
"protein_id": "ENSP00000601021.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930962.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930961.1",
"protein_id": "ENSP00000601020.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 97,
"cds_start": 26,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930961.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "NM_001366406.1",
"protein_id": "NP_001353335.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 96,
"cds_start": 26,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366406.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000368707.5",
"protein_id": "ENSP00000357696.5",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 96,
"cds_start": 26,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368707.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "XM_047427373.1",
"protein_id": "XP_047283329.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 96,
"cds_start": 26,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"transcript": "NM_001366407.1",
"protein_id": "NP_001353336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"transcript": "ENST00000497140.5",
"protein_id": "ENSP00000473489.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"transcript": "NM_001366407.1",
"protein_id": "NP_001353336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"transcript": "ENST00000497140.5",
"protein_id": "ENSP00000473489.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497140.5"
}
],
"gene_symbol": "S100A2",
"gene_hgnc_id": 10492,
"dbsnp": "rs575985349",
"frequency_reference_population": 0.00002539983,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000232583,
"gnomad_genomes_af": 0.0000459492,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21614524722099304,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.3806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.655,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005978.4",
"gene_symbol": "S100A2",
"hgnc_id": 10492,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val"
}
],
"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
}