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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: 19-51452586-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51452586&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51452586,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014442.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1293T>G",
"hgvs_p": "p.Pro431Pro",
"transcript": "NM_014442.3",
"protein_id": "NP_055257.2",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 499,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": "ENST00000321424.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014442.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1293T>G",
"hgvs_p": "p.Pro431Pro",
"transcript": "ENST00000321424.7",
"protein_id": "ENSP00000321077.2",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 499,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": "NM_014442.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321424.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Pro338Pro",
"transcript": "ENST00000340550.5",
"protein_id": "ENSP00000339448.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 406,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340550.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1260T>G",
"hgvs_p": "p.Pro420Pro",
"transcript": "ENST00000853029.1",
"protein_id": "ENSP00000523088.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 488,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853029.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000960611.1",
"protein_id": "ENSP00000630670.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 435,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960611.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1023T>G",
"hgvs_p": "p.Pro341Pro",
"transcript": "ENST00000960610.1",
"protein_id": "ENSP00000630669.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 409,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960610.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Pro338Pro",
"transcript": "NM_001363548.1",
"protein_id": "NP_001350477.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 406,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363548.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.966T>G",
"hgvs_p": "p.Pro322Pro",
"transcript": "ENST00000430817.5",
"protein_id": "ENSP00000389142.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 390,
"cds_start": 966,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430817.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.966T>G",
"hgvs_p": "p.Pro322Pro",
"transcript": "ENST00000960609.1",
"protein_id": "ENSP00000630668.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 390,
"cds_start": 966,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960609.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"hgvs_c": "c.1260T>G",
"hgvs_p": "p.Pro420Pro",
"transcript": "XM_011526734.3",
"protein_id": "XP_011525036.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 488,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526734.3"
}
],
"gene_symbol": "SIGLEC8",
"gene_hgnc_id": 10877,
"dbsnp": "rs114809409",
"frequency_reference_population": 0.002375294,
"hom_count_reference_population": 69,
"allele_count_reference_population": 3732,
"gnomad_exomes_af": 0.00125203,
"gnomad_genomes_af": 0.0128723,
"gnomad_exomes_ac": 1777,
"gnomad_genomes_ac": 1955,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.428,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014442.3",
"gene_symbol": "SIGLEC8",
"hgnc_id": 10877,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1293T>G",
"hgvs_p": "p.Pro431Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}