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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: 19-41206370-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41206370&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41206370,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030622.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Pro466Arg",
"transcript": "NM_030622.8",
"protein_id": "NP_085125.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 504,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310054.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030622.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Pro466Arg",
"transcript": "ENST00000310054.9",
"protein_id": "ENSP00000308032.3",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 504,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030622.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310054.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1394C>G",
"hgvs_p": "p.Pro465Arg",
"transcript": "ENST00000922089.1",
"protein_id": "ENSP00000592148.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 503,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922089.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1217C>G",
"hgvs_p": "p.Pro406Arg",
"transcript": "ENST00000922088.1",
"protein_id": "ENSP00000592147.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 444,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922088.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Pro384Arg",
"transcript": "ENST00000922091.1",
"protein_id": "ENSP00000592150.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 422,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922091.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Pro356Arg",
"transcript": "ENST00000922090.1",
"protein_id": "ENSP00000592149.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 394,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922090.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Pro356Arg",
"transcript": "ENST00000922093.1",
"protein_id": "ENSP00000592152.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 394,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922093.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Pro307Arg",
"transcript": "ENST00000880810.1",
"protein_id": "ENSP00000550869.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880810.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Pro305Arg",
"transcript": "ENST00000922092.1",
"protein_id": "ENSP00000592151.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 343,
"cds_start": 914,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922092.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Pro255Arg",
"transcript": "ENST00000880809.1",
"protein_id": "ENSP00000550868.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 293,
"cds_start": 764,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880809.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.434C>G",
"hgvs_p": "p.Pro145Arg",
"transcript": "ENST00000922095.1",
"protein_id": "ENSP00000592154.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 183,
"cds_start": 434,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922095.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Pro137Arg",
"transcript": "ENST00000922094.1",
"protein_id": "ENSP00000592153.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 175,
"cds_start": 410,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "c.*91C>G",
"hgvs_p": null,
"transcript": "ENST00000593890.1",
"protein_id": "ENSP00000469850.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "n.*408C>G",
"hgvs_p": null,
"transcript": "ENST00000593545.5",
"protein_id": "ENSP00000472555.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000593545.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "n.*408C>G",
"hgvs_p": null,
"transcript": "ENST00000593545.5",
"protein_id": "ENSP00000472555.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000593545.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"hgvs_c": "n.*408C>G",
"hgvs_p": null,
"transcript": "ENST00000595590.1",
"protein_id": "ENSP00000469593.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000595590.1"
}
],
"gene_symbol": "CYP2S1",
"gene_hgnc_id": 15654,
"dbsnp": "rs34971233",
"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": 0.22741690278053284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.14,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.628,
"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": 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": "NM_030622.8",
"gene_symbol": "CYP2S1",
"hgnc_id": 15654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Pro466Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}