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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: 9-18969424-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=18969424&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 18969424,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_153707.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.39-18487T>G",
"hgvs_p": null,
"transcript": "NM_153707.4",
"protein_id": "NP_714918.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "ENST00000380534.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153707.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.39-18487T>G",
"hgvs_p": null,
"transcript": "ENST00000380534.9",
"protein_id": "ENSP00000369907.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "NM_153707.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380534.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.-157-18487T>G",
"hgvs_p": null,
"transcript": "NM_001287049.2",
"protein_id": "NP_001273978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287049.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.-157-18487T>G",
"hgvs_p": null,
"transcript": "ENST00000542071.2",
"protein_id": "ENSP00000438823.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542071.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.-157-18487T>G",
"hgvs_p": null,
"transcript": "ENST00000649457.1",
"protein_id": "ENSP00000497677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.39-18487T>G",
"hgvs_p": null,
"transcript": "NM_001287050.2",
"protein_id": "NP_001273979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287050.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.39-18487T>G",
"hgvs_p": null,
"transcript": "ENST00000380530.1",
"protein_id": "ENSP00000369902.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.111-18487T>G",
"hgvs_p": null,
"transcript": "XM_011517744.2",
"protein_id": "XP_011516046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517744.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.54-18487T>G",
"hgvs_p": null,
"transcript": "XM_011517745.3",
"protein_id": "XP_011516047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517745.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.54-18487T>G",
"hgvs_p": null,
"transcript": "XM_011517746.3",
"protein_id": "XP_011516048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517746.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.54-18487T>G",
"hgvs_p": null,
"transcript": "XM_024447428.2",
"protein_id": "XP_024303196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447428.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.54-18487T>G",
"hgvs_p": null,
"transcript": "XM_047422843.1",
"protein_id": "XP_047278799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "c.-157-18487T>G",
"hgvs_p": null,
"transcript": "XM_017014315.3",
"protein_id": "XP_016869804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014315.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"hgvs_c": "n.340-18487T>G",
"hgvs_p": null,
"transcript": "ENST00000583128.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583128.2"
}
],
"gene_symbol": "SAXO1",
"gene_hgnc_id": 28566,
"dbsnp": "rs10511666",
"frequency_reference_population": 0.20417608,
"hom_count_reference_population": 6990,
"allele_count_reference_population": 31056,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.204176,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 31056,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6990,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.286,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_153707.4",
"gene_symbol": "SAXO1",
"hgnc_id": 28566,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.39-18487T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}