← Back to variant description
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: 10-98721670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98721670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98721670,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000370552.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "NM_021828.5",
"protein_id": "NP_068600.4",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 592,
"cds_start": 943,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": "ENST00000370552.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "ENST00000370552.8",
"protein_id": "ENSP00000359583.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 592,
"cds_start": 943,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": "NM_021828.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "ENST00000370546.5",
"protein_id": "ENSP00000359577.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 548,
"cds_start": 943,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Ala257Thr",
"transcript": "ENST00000370549.5",
"protein_id": "ENSP00000359580.1",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 534,
"cds_start": 769,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Ala203Thr",
"transcript": "ENST00000628193.2",
"protein_id": "ENSP00000485916.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "NM_001166246.1",
"protein_id": "NP_001159718.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 548,
"cds_start": 943,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Ala257Thr",
"transcript": "NM_001166244.1",
"protein_id": "NP_001159716.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 534,
"cds_start": 769,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Ala203Thr",
"transcript": "NM_001166245.1",
"protein_id": "NP_001159717.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000404542.5",
"protein_id": "ENSP00000384384.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 389,
"cds_start": 334,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "XM_011540029.1",
"protein_id": "XP_011538331.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 543,
"cds_start": 943,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"transcript": "XM_011540030.2",
"protein_id": "XP_011538332.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 538,
"cds_start": 781,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "XM_017016496.3",
"protein_id": "XP_016871985.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 441,
"cds_start": 943,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "XM_011540031.2",
"protein_id": "XP_011538333.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 420,
"cds_start": 427,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "XM_017016497.2",
"protein_id": "XP_016871986.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 420,
"cds_start": 427,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "XM_024448119.2",
"protein_id": "XP_024303887.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 420,
"cds_start": 427,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "XM_047425614.1",
"protein_id": "XP_047281570.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 420,
"cds_start": 427,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "XM_047425615.1",
"protein_id": "XP_047281571.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 335,
"cds_start": 943,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Ala47Thr",
"transcript": "XM_017016498.2",
"protein_id": "XP_016871987.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 324,
"cds_start": 139,
"cds_end": null,
"cds_length": 975,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Ala47Thr",
"transcript": "XM_047425616.1",
"protein_id": "XP_047281572.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 324,
"cds_start": 139,
"cds_end": null,
"cds_length": 975,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HPSE2",
"gene_hgnc_id": 18374,
"dbsnp": "rs17110744",
"frequency_reference_population": 0.0023756959,
"hom_count_reference_population": 53,
"allele_count_reference_population": 3833,
"gnomad_exomes_af": 0.00137885,
"gnomad_genomes_af": 0.0119563,
"gnomad_exomes_ac": 2015,
"gnomad_genomes_ac": 1818,
"gnomad_exomes_homalt": 28,
"gnomad_genomes_homalt": 25,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005834460258483887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.678,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000370552.8",
"gene_symbol": "HPSE2",
"hgnc_id": 18374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}