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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: 10-98459592-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98459592&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HPSE2",
"hgnc_id": 18374,
"hgvs_c": "c.1761G>C",
"hgvs_p": "p.Leu587Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_021828.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0994,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05174031853675842,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 592,
"aa_ref": "L",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1761,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_021828.5",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1761G>C",
"hgvs_p": "p.Leu587Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370552.8",
"protein_coding": true,
"protein_id": "NP_068600.4",
"strand": false,
"transcript": "NM_021828.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 592,
"aa_ref": "L",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1761,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000370552.8",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1761G>C",
"hgvs_p": "p.Leu587Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021828.5",
"protein_coding": true,
"protein_id": "ENSP00000359583.3",
"strand": false,
"transcript": "ENST00000370552.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 534,
"aa_ref": "L",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000370549.5",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1587G>C",
"hgvs_p": "p.Leu529Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359580.1",
"strand": false,
"transcript": "ENST00000370549.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 480,
"aa_ref": "L",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1425,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000628193.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1425G>C",
"hgvs_p": "p.Leu475Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485916.1",
"strand": false,
"transcript": "ENST00000628193.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000370546.5",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.*184G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359577.1",
"strand": false,
"transcript": "ENST00000370546.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 534,
"aa_ref": "L",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001166244.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1587G>C",
"hgvs_p": "p.Leu529Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159716.1",
"strand": false,
"transcript": "NM_001166244.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 480,
"aa_ref": "L",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1425,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001166245.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1425G>C",
"hgvs_p": "p.Leu475Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159717.1",
"strand": false,
"transcript": "NM_001166245.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 389,
"aa_ref": "L",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000404542.5",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1152G>C",
"hgvs_p": "p.Leu384Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384384.2",
"strand": false,
"transcript": "ENST00000404542.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 543,
"aa_ref": "L",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1614,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011540029.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1614G>C",
"hgvs_p": "p.Leu538Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538331.1",
"strand": false,
"transcript": "XM_011540029.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 538,
"aa_ref": "L",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011540030.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1599G>C",
"hgvs_p": "p.Leu533Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538332.1",
"strand": false,
"transcript": "XM_011540030.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 420,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1245,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011540031.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1245G>C",
"hgvs_p": "p.Leu415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538333.1",
"strand": false,
"transcript": "XM_011540031.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 420,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1245,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017016497.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1245G>C",
"hgvs_p": "p.Leu415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871986.1",
"strand": false,
"transcript": "XM_017016497.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 420,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1245,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024448119.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1245G>C",
"hgvs_p": "p.Leu415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303887.1",
"strand": false,
"transcript": "XM_024448119.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 420,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1245,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425614.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.1245G>C",
"hgvs_p": "p.Leu415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281570.1",
"strand": false,
"transcript": "XM_047425614.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 324,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 975,
"cds_start": 957,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017016498.2",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.957G>C",
"hgvs_p": "p.Leu319Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871987.1",
"strand": false,
"transcript": "XM_017016498.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 324,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 975,
"cds_start": 957,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047425616.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.957G>C",
"hgvs_p": "p.Leu319Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281572.1",
"strand": false,
"transcript": "XM_047425616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001166246.1",
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"hgvs_c": "c.*184G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159718.1",
"strand": false,
"transcript": "NM_001166246.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs555136688",
"effect": "missense_variant",
"frequency_reference_population": 0.0000061953724,
"gene_hgnc_id": 18374,
"gene_symbol": "HPSE2",
"gnomad_exomes_ac": 8,
"gnomad_exomes_af": 0.00000547239,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131385,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.889,
"pos": 98459592,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.035,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021828.5"
}
]
}