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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: 12-7814428-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7814428&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7814428,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286237.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "NM_001286234.2",
"protein_id": "NP_001273163.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431042.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286234.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "ENST00000431042.7",
"protein_id": "ENSP00000407287.2",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286234.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431042.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Asp484Ala",
"transcript": "ENST00000396589.6",
"protein_id": "ENSP00000379834.2",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 520,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396589.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Asp484Ala",
"transcript": "ENST00000543909.5",
"protein_id": "ENSP00000440480.1",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 520,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543909.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.374A>C",
"hgvs_p": "p.Asp125Ala",
"transcript": "ENST00000542505.5",
"protein_id": "ENSP00000438484.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 161,
"cds_start": 374,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542505.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "NM_001286237.2",
"protein_id": "NP_001273166.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 535,
"cds_start": 1496,
"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": "NM_001286237.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000539924.5",
"protein_id": "ENSP00000445929.1",
"transcript_support_level": 2,
"aa_start": 499,
"aa_end": null,
"aa_length": 535,
"cds_start": 1496,
"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": "ENST00000539924.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Asp484Ala",
"transcript": "NM_001286233.2",
"protein_id": "NP_001273162.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 520,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286233.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Asp484Ala",
"transcript": "NM_153449.4",
"protein_id": "NP_703150.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 520,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153449.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Asp484Ala",
"transcript": "ENST00000616981.4",
"protein_id": "ENSP00000482927.1",
"transcript_support_level": 5,
"aa_start": 484,
"aa_end": null,
"aa_length": 520,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616981.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "NM_001286235.2",
"protein_id": "NP_001273164.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286235.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "ENST00000340749.9",
"protein_id": "ENSP00000340450.5",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340749.9"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "ENST00000864025.1",
"protein_id": "ENSP00000534084.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864025.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asp461Ala",
"transcript": "ENST00000940598.1",
"protein_id": "ENSP00000610657.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 497,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940598.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1124A>C",
"hgvs_p": "p.Asp375Ala",
"transcript": "NM_001286236.2",
"protein_id": "NP_001273165.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 411,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286236.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1124A>C",
"hgvs_p": "p.Asp375Ala",
"transcript": "ENST00000535295.5",
"protein_id": "ENSP00000440492.1",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 411,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535295.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.1124A>C",
"hgvs_p": "p.Asp375Ala",
"transcript": "ENST00000542546.5",
"protein_id": "ENSP00000443903.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 411,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542546.5"
}
],
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"dbsnp": "rs1165268829",
"frequency_reference_population": 0.000008057308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000082099,
"gnomad_genomes_af": 0.00000658796,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4120538830757141,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.491,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.981,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286237.2",
"gene_symbol": "SLC2A14",
"hgnc_id": 18301,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}