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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: 12-7828706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7828706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7828706,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001286237.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "NM_001286234.2",
"protein_id": "NP_001273163.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "ENST00000431042.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286234.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000431042.7",
"protein_id": "ENSP00000407287.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "NM_001286234.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431042.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "ENST00000396589.6",
"protein_id": "ENSP00000379834.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 520,
"cds_start": 743,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396589.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "ENST00000543909.5",
"protein_id": "ENSP00000440480.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 520,
"cds_start": 743,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543909.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-144-7381G>A",
"hgvs_p": null,
"transcript": "ENST00000542505.5",
"protein_id": "ENSP00000438484.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542505.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "NM_001286237.2",
"protein_id": "NP_001273166.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 535,
"cds_start": 788,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286237.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "ENST00000539924.5",
"protein_id": "ENSP00000445929.1",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 535,
"cds_start": 788,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539924.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "NM_001286233.2",
"protein_id": "NP_001273162.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 520,
"cds_start": 743,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286233.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "NM_153449.4",
"protein_id": "NP_703150.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 520,
"cds_start": 743,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153449.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"transcript": "ENST00000616981.4",
"protein_id": "ENSP00000482927.1",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 520,
"cds_start": 743,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616981.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "NM_001286235.2",
"protein_id": "NP_001273164.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286235.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000340749.9",
"protein_id": "ENSP00000340450.5",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340749.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000864025.1",
"protein_id": "ENSP00000534084.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864025.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000940598.1",
"protein_id": "ENSP00000610657.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 497,
"cds_start": 674,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940598.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "NM_001286236.2",
"protein_id": "NP_001273165.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 411,
"cds_start": 416,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286236.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "ENST00000535295.5",
"protein_id": "ENSP00000440492.1",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 411,
"cds_start": 416,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535295.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "ENST00000542546.5",
"protein_id": "ENSP00000443903.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 411,
"cds_start": 416,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542546.5"
}
],
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"dbsnp": "rs763892160",
"frequency_reference_population": 0.000009294901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889394,
"gnomad_genomes_af": 0.0000131477,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0866377055644989,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.00800000037997961,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000841951141663704,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286237.2",
"gene_symbol": "SLC2A14",
"hgnc_id": 18301,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263Gln"
}
],
"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
}