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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: 10-98459617-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98459617&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98459617,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021828.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Tyr579Cys",
"transcript": "NM_021828.5",
"protein_id": "NP_068600.4",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 592,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370552.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021828.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Tyr579Cys",
"transcript": "ENST00000370552.8",
"protein_id": "ENSP00000359583.3",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 592,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021828.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370552.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1562A>G",
"hgvs_p": "p.Tyr521Cys",
"transcript": "ENST00000370549.5",
"protein_id": "ENSP00000359580.1",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 534,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370549.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Tyr467Cys",
"transcript": "ENST00000628193.2",
"protein_id": "ENSP00000485916.1",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 480,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628193.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.*159A>G",
"hgvs_p": null,
"transcript": "ENST00000370546.5",
"protein_id": "ENSP00000359577.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370546.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1562A>G",
"hgvs_p": "p.Tyr521Cys",
"transcript": "NM_001166244.1",
"protein_id": "NP_001159716.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 534,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166244.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Tyr467Cys",
"transcript": "NM_001166245.1",
"protein_id": "NP_001159717.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 480,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166245.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Tyr376Cys",
"transcript": "ENST00000404542.5",
"protein_id": "ENSP00000384384.2",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 389,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404542.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Tyr530Cys",
"transcript": "XM_011540029.1",
"protein_id": "XP_011538331.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 543,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540029.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Tyr525Cys",
"transcript": "XM_011540030.2",
"protein_id": "XP_011538332.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 538,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540030.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Tyr407Cys",
"transcript": "XM_011540031.2",
"protein_id": "XP_011538333.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 420,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540031.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Tyr407Cys",
"transcript": "XM_017016497.2",
"protein_id": "XP_016871986.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 420,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016497.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Tyr407Cys",
"transcript": "XM_024448119.2",
"protein_id": "XP_024303887.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 420,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448119.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Tyr407Cys",
"transcript": "XM_047425614.1",
"protein_id": "XP_047281570.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 420,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425614.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "XM_017016498.2",
"protein_id": "XP_016871987.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 324,
"cds_start": 932,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016498.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "XM_047425616.1",
"protein_id": "XP_047281572.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 324,
"cds_start": 932,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.*159A>G",
"hgvs_p": null,
"transcript": "NM_001166246.1",
"protein_id": "NP_001159718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166246.1"
}
],
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"dbsnp": "rs10883100",
"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": 0.8214689493179321,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9165,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.544,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021828.5",
"gene_symbol": "HPSE2",
"hgnc_id": 18374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Tyr579Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}