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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: 17-28495775-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28495775&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28495775,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000314669.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1429G>T",
"hgvs_p": "p.Val477Leu",
"transcript": "NM_003984.4",
"protein_id": "NP_003975.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 592,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": "ENST00000314669.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1429G>T",
"hgvs_p": "p.Val477Leu",
"transcript": "ENST00000314669.10",
"protein_id": "ENSP00000316202.6",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 592,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": "NM_003984.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RSKR",
"gene_hgnc_id": 26314,
"hgvs_c": "n.*1196-39666C>A",
"hgvs_p": null,
"transcript": "ENST00000481916.6",
"protein_id": "ENSP00000436369.2",
"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": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Val526Leu",
"transcript": "NM_001145975.2",
"protein_id": "NP_001139447.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 641,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Val526Leu",
"transcript": "ENST00000444914.7",
"protein_id": "ENSP00000392411.3",
"transcript_support_level": 2,
"aa_start": 526,
"aa_end": null,
"aa_length": 641,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Val433Leu",
"transcript": "NM_001346683.2",
"protein_id": "NP_001333612.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 548,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Val433Leu",
"transcript": "ENST00000579281.5",
"protein_id": "ENSP00000463421.2",
"transcript_support_level": 2,
"aa_start": 433,
"aa_end": null,
"aa_length": 548,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu",
"transcript": "NM_001346684.2",
"protein_id": "NP_001333613.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 521,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1579G>T",
"hgvs_p": "p.Val527Leu",
"transcript": "XM_011525450.4",
"protein_id": "XP_011523752.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 642,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Val482Leu",
"transcript": "XM_047437011.1",
"protein_id": "XP_047292967.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 597,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Val478Leu",
"transcript": "XM_011525452.2",
"protein_id": "XP_011523754.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 593,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.1360G>T",
"hgvs_p": "p.Val454Leu",
"transcript": "XM_011525453.3",
"protein_id": "XP_011523755.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 569,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.*1056G>T",
"hgvs_p": null,
"transcript": "ENST00000459818.2",
"protein_id": "ENSP00000464074.2",
"transcript_support_level": 2,
"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": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.1818G>T",
"hgvs_p": null,
"transcript": "ENST00000577903.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.*1056G>T",
"hgvs_p": null,
"transcript": "ENST00000459818.2",
"protein_id": "ENSP00000464074.2",
"transcript_support_level": 2,
"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": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"dbsnp": "rs11568476",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6786137819290161,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.5559,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.583,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000314669.10",
"gene_symbol": "SLC13A2",
"hgnc_id": 10917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1429G>T",
"hgvs_p": "p.Val477Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1196-39666C>A",
"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
}