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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: 15-28168546-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28168546&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 28168546,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261609.13",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10274C>T",
"hgvs_p": "p.Pro3425Leu",
"transcript": "NM_004667.6",
"protein_id": "NP_004658.3",
"transcript_support_level": null,
"aa_start": 3425,
"aa_end": null,
"aa_length": 4834,
"cds_start": 10274,
"cds_end": null,
"cds_length": 14505,
"cdna_start": 10410,
"cdna_end": null,
"cdna_length": 15364,
"mane_select": "ENST00000261609.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10274C>T",
"hgvs_p": "p.Pro3425Leu",
"transcript": "ENST00000261609.13",
"protein_id": "ENSP00000261609.8",
"transcript_support_level": 1,
"aa_start": 3425,
"aa_end": null,
"aa_length": 4834,
"cds_start": 10274,
"cds_end": null,
"cds_length": 14505,
"cdna_start": 10410,
"cdna_end": null,
"cdna_length": 15364,
"mane_select": "NM_004667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Pro82Leu",
"transcript": "ENST00000569772.1",
"protein_id": "ENSP00000457745.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 198,
"cds_start": 245,
"cds_end": null,
"cds_length": 597,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10259C>T",
"hgvs_p": "p.Pro3420Leu",
"transcript": "XM_006720726.4",
"protein_id": "XP_006720789.1",
"transcript_support_level": null,
"aa_start": 3420,
"aa_end": null,
"aa_length": 4829,
"cds_start": 10259,
"cds_end": null,
"cds_length": 14490,
"cdna_start": 10395,
"cdna_end": null,
"cdna_length": 15349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10247C>T",
"hgvs_p": "p.Pro3416Leu",
"transcript": "XM_047433206.1",
"protein_id": "XP_047289162.1",
"transcript_support_level": null,
"aa_start": 3416,
"aa_end": null,
"aa_length": 4825,
"cds_start": 10247,
"cds_end": null,
"cds_length": 14478,
"cdna_start": 10253,
"cdna_end": null,
"cdna_length": 15207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10160C>T",
"hgvs_p": "p.Pro3387Leu",
"transcript": "XM_005268276.6",
"protein_id": "XP_005268333.1",
"transcript_support_level": null,
"aa_start": 3387,
"aa_end": null,
"aa_length": 4796,
"cds_start": 10160,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 10522,
"cdna_end": null,
"cdna_length": 15476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10160C>T",
"hgvs_p": "p.Pro3387Leu",
"transcript": "XM_017022695.1",
"protein_id": "XP_016878184.1",
"transcript_support_level": null,
"aa_start": 3387,
"aa_end": null,
"aa_length": 4796,
"cds_start": 10160,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 10330,
"cdna_end": null,
"cdna_length": 15284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10160C>T",
"hgvs_p": "p.Pro3387Leu",
"transcript": "XM_017022696.2",
"protein_id": "XP_016878185.1",
"transcript_support_level": null,
"aa_start": 3387,
"aa_end": null,
"aa_length": 4796,
"cds_start": 10160,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 10227,
"cdna_end": null,
"cdna_length": 15181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.10016C>T",
"hgvs_p": "p.Pro3339Leu",
"transcript": "XM_006720727.4",
"protein_id": "XP_006720790.1",
"transcript_support_level": null,
"aa_start": 3339,
"aa_end": null,
"aa_length": 4748,
"cds_start": 10016,
"cds_end": null,
"cds_length": 14247,
"cdna_start": 10152,
"cdna_end": null,
"cdna_length": 15106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.9791C>T",
"hgvs_p": "p.Pro3264Leu",
"transcript": "XM_047433207.1",
"protein_id": "XP_047289163.1",
"transcript_support_level": null,
"aa_start": 3264,
"aa_end": null,
"aa_length": 4673,
"cds_start": 9791,
"cds_end": null,
"cds_length": 14022,
"cdna_start": 9889,
"cdna_end": null,
"cdna_length": 14843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.3440C>T",
"hgvs_p": "p.Pro1147Leu",
"transcript": "XM_017022697.2",
"protein_id": "XP_016878186.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2556,
"cds_start": 3440,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 3713,
"cdna_end": null,
"cdna_length": 8667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.3440C>T",
"hgvs_p": "p.Pro1147Leu",
"transcript": "XM_017022698.2",
"protein_id": "XP_016878187.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2556,
"cds_start": 3440,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 8580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "n.1985C>T",
"hgvs_p": null,
"transcript": "ENST00000650509.1",
"protein_id": "ENSP00000496936.1",
"transcript_support_level": null,
"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": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"dbsnp": "rs147705404",
"frequency_reference_population": 0.00074155483,
"hom_count_reference_population": 11,
"allele_count_reference_population": 1197,
"gnomad_exomes_af": 0.000442591,
"gnomad_genomes_af": 0.00361058,
"gnomad_exomes_ac": 647,
"gnomad_genomes_ac": 550,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008213609457015991,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.1763,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.793,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000261609.13",
"gene_symbol": "HERC2",
"hgnc_id": 4868,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10274C>T",
"hgvs_p": "p.Pro3425Leu"
}
],
"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
}