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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: 20-1312422-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1312422&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1312422,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080489.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "NM_080489.5",
"protein_id": "NP_536737.3",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360779.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080489.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000360779.4",
"protein_id": "ENSP00000354013.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080489.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360779.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000339987.7",
"protein_id": "ENSP00000342935.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339987.7"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.392T>G",
"hgvs_p": "p.Val131Gly",
"transcript": "ENST00000381808.7",
"protein_id": "ENSP00000371229.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 207,
"cds_start": 392,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381808.7"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "NM_001199784.2",
"protein_id": "NP_001186713.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199784.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000381812.5",
"protein_id": "ENSP00000371233.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381812.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000877946.1",
"protein_id": "ENSP00000548005.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877946.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000877947.1",
"protein_id": "ENSP00000548006.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877947.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000877948.1",
"protein_id": "ENSP00000548007.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877948.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000941677.1",
"protein_id": "ENSP00000611736.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941677.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000941678.1",
"protein_id": "ENSP00000611737.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 292,
"cds_start": 647,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941678.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.638T>G",
"hgvs_p": "p.Val213Gly",
"transcript": "ENST00000877945.1",
"protein_id": "ENSP00000548004.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 289,
"cds_start": 638,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877945.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.632T>G",
"hgvs_p": "p.Val211Gly",
"transcript": "ENST00000941675.1",
"protein_id": "ENSP00000611734.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 287,
"cds_start": 632,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941675.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly",
"transcript": "ENST00000941674.1",
"protein_id": "ENSP00000611733.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 282,
"cds_start": 647,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941674.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Val193Gly",
"transcript": "ENST00000941676.1",
"protein_id": "ENSP00000611735.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 269,
"cds_start": 578,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941676.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"hgvs_c": "c.392T>G",
"hgvs_p": "p.Val131Gly",
"transcript": "NM_015685.6",
"protein_id": "NP_056500.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 207,
"cds_start": 392,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015685.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A-SDCBP2",
"gene_hgnc_id": 41997,
"hgvs_c": "n.925T>G",
"hgvs_p": null,
"transcript": "NR_037661.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037661.1"
}
],
"gene_symbol": "SDCBP2",
"gene_hgnc_id": 15756,
"dbsnp": "rs926792736",
"frequency_reference_population": 0.0000055768855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547317,
"gnomad_genomes_af": 0.00000657341,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5339859127998352,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.205,
"phylop100way_prediction": "Benign",
"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_080489.5",
"gene_symbol": "SDCBP2",
"hgnc_id": 15756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Val216Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037661.1",
"gene_symbol": "FKBP1A-SDCBP2",
"hgnc_id": 41997,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.925T>G",
"hgvs_p": null
}
],
"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
}