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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: 2-199433378-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=199433378&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 199433378,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000417098.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "NM_001172509.2",
"protein_id": "NP_001165980.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": "ENST00000417098.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000417098.6",
"protein_id": "ENSP00000401112.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": "NM_001172509.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000260926.9",
"protein_id": "ENSP00000260926.5",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000428695.6",
"protein_id": "ENSP00000388581.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 615,
"cds_start": 306,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2313,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.306G>A",
"hgvs_p": null,
"transcript": "ENST00000440919.1",
"protein_id": "ENSP00000415610.1",
"transcript_support_level": 1,
"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": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "NM_001172517.1",
"protein_id": "NP_001165988.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "NM_015265.4",
"protein_id": "NP_056080.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000457245.5",
"protein_id": "ENSP00000405420.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000700193.1",
"protein_id": "ENSP00000514854.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000700191.1",
"protein_id": "ENSP00000514853.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 615,
"cds_start": 306,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "ENST00000700208.1",
"protein_id": "ENSP00000514860.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 118,
"cds_start": 306,
"cds_end": null,
"cds_length": 357,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu",
"transcript": "XM_047443775.1",
"protein_id": "XP_047299731.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 733,
"cds_start": 306,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.132G>A",
"hgvs_p": "p.Leu44Leu",
"transcript": "XM_005246396.4",
"protein_id": "XP_005246453.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 675,
"cds_start": 132,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 4829,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.564G>A",
"hgvs_p": null,
"transcript": "ENST00000700194.1",
"protein_id": null,
"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": 3171,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.966G>A",
"hgvs_p": null,
"transcript": "NR_134967.2",
"protein_id": null,
"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": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.169+22491G>A",
"hgvs_p": null,
"transcript": "ENST00000443023.5",
"protein_id": "ENSP00000388764.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": -4,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"dbsnp": "rs201405384",
"frequency_reference_population": 0.000058235346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.0000560935,
"gnomad_genomes_af": 0.0000787939,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.154,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000417098.6",
"gene_symbol": "SATB2",
"hgnc_id": 21637,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Leu102Leu"
}
],
"clinvar_disease": "Chromosome 2q32-q33 deletion syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Chromosome 2q32-q33 deletion syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}