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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: 5-132294901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132294901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132294901,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003059.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "NM_003059.3",
"protein_id": "NP_003050.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 551,
"cds_start": 285,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000200652.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003059.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000200652.4",
"protein_id": "ENSP00000200652.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 551,
"cds_start": 285,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003059.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200652.4"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "n.138+277G>A",
"hgvs_p": null,
"transcript": "ENST00000471826.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.-140C>T",
"hgvs_p": null,
"transcript": "XM_006714675.5",
"protein_id": "XP_006714738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714675.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000947750.1",
"protein_id": "ENSP00000617809.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 557,
"cds_start": 285,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947750.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000897525.1",
"protein_id": "ENSP00000567584.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 549,
"cds_start": 285,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897525.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000897523.1",
"protein_id": "ENSP00000567582.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 540,
"cds_start": 285,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897523.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000947748.1",
"protein_id": "ENSP00000617807.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 535,
"cds_start": 285,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947748.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000897524.1",
"protein_id": "ENSP00000567583.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 528,
"cds_start": 285,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897524.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000947749.1",
"protein_id": "ENSP00000617808.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 490,
"cds_start": 285,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947749.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000947747.1",
"protein_id": "ENSP00000617806.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 459,
"cds_start": 285,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947747.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000897522.1",
"protein_id": "ENSP00000567581.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 365,
"cds_start": 285,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897522.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "XM_047417594.1",
"protein_id": "XP_047273550.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 491,
"cds_start": 285,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417594.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu",
"transcript": "XM_011543589.3",
"protein_id": "XP_011541891.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 459,
"cds_start": 285,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543589.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"hgvs_c": "c.-140C>T",
"hgvs_p": null,
"transcript": "XM_006714675.5",
"protein_id": "XP_006714738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714675.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.78+277G>A",
"hgvs_p": null,
"transcript": "ENST00000431054.5",
"protein_id": "ENSP00000391257.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431054.5"
}
],
"gene_symbol": "SLC22A4",
"gene_hgnc_id": 10968,
"dbsnp": "rs752151457",
"frequency_reference_population": 0.00003571272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000339367,
"gnomad_genomes_af": 0.000052561,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.435,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003059.3",
"gene_symbol": "SLC22A4",
"hgnc_id": 10968,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Leu95Leu"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000431054.5",
"gene_symbol": "P4HA2",
"hgnc_id": 8547,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.78+277G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}