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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: 22-50524255-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50524255&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50524255,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000395693.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "NM_005138.3",
"protein_id": "NP_005129.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 984,
"mane_select": "ENST00000395693.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "ENST00000395693.8",
"protein_id": "ENSP00000379046.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 984,
"mane_select": "NM_005138.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "NM_152299.4",
"protein_id": "NP_689512.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "ENST00000420993.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "ENST00000420993.7",
"protein_id": "ENSP00000410088.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "NM_152299.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "NM_001169109.2",
"protein_id": "NP_001162580.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "NM_001169110.1",
"protein_id": "NP_001162581.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "NM_001169111.2",
"protein_id": "NP_001162582.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "ENST00000252785.3",
"protein_id": "ENSP00000252785.3",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "ENST00000535425.5",
"protein_id": "ENSP00000444242.1",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "ENST00000543927.6",
"protein_id": "ENSP00000444433.1",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 266,
"cds_start": 157,
"cds_end": null,
"cds_length": 801,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu",
"transcript": "ENST00000638598.2",
"protein_id": "ENSP00000491753.2",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 167,
"cds_start": 157,
"cds_end": null,
"cds_length": 506,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272821",
"gene_hgnc_id": null,
"hgvs_c": "n.330G>C",
"hgvs_p": null,
"transcript": "ENST00000608319.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "NM_001185011.2",
"protein_id": "NP_001171940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_005261912.5",
"protein_id": "XP_005261969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_017028793.3",
"protein_id": "XP_016884282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_011530685.3",
"protein_id": "XP_011528987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_047441352.1",
"protein_id": "XP_047297308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_047441353.1",
"protein_id": "XP_047297309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*880G>C",
"hgvs_p": null,
"transcript": "XM_047441354.1",
"protein_id": "XP_047297310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"dbsnp": "rs74315510",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10204750299453735,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.0801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.791,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395693.8",
"gene_symbol": "SCO2",
"hgnc_id": 10604,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Gln53Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420993.7",
"gene_symbol": "NCAPH2",
"hgnc_id": 25071,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*880G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000608319.1",
"gene_symbol": "ENSG00000272821",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.330G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}