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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: 11-43798398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43798398&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43798398,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016142.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Gly121Asp",
"transcript": "NM_016142.3",
"protein_id": "NP_057226.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 312,
"cds_start": 362,
"cds_end": null,
"cds_length": 939,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": "ENST00000278353.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Gly121Asp",
"transcript": "ENST00000278353.10",
"protein_id": "ENSP00000278353.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 312,
"cds_start": 362,
"cds_end": null,
"cds_length": 939,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": "NM_016142.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Gly89Asp",
"transcript": "ENST00000638034.1",
"protein_id": "ENSP00000490701.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 177,
"cds_start": 266,
"cds_end": null,
"cds_length": 535,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Gly80Asp",
"transcript": "ENST00000531185.5",
"protein_id": "ENSP00000436582.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 163,
"cds_start": 239,
"cds_end": null,
"cds_length": 492,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Gly89Asp",
"transcript": "XM_017017881.2",
"protein_id": "XP_016873370.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 280,
"cds_start": 266,
"cds_end": null,
"cds_length": 843,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Gly47Asp",
"transcript": "XM_011520156.2",
"protein_id": "XP_011518458.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 238,
"cds_start": 140,
"cds_end": null,
"cds_length": 717,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Gly47Asp",
"transcript": "XM_024448571.2",
"protein_id": "XP_024304339.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 238,
"cds_start": 140,
"cds_end": null,
"cds_length": 717,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Gly47Asp",
"transcript": "XM_024448572.2",
"protein_id": "XP_024304340.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 238,
"cds_start": 140,
"cds_end": null,
"cds_length": 717,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Gly47Asp",
"transcript": "XM_024448573.2",
"protein_id": "XP_024304341.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 238,
"cds_start": 140,
"cds_end": null,
"cds_length": 717,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Gly47Asp",
"transcript": "XM_047427074.1",
"protein_id": "XP_047283030.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 238,
"cds_start": 140,
"cds_end": null,
"cds_length": 717,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2585,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.280G>A",
"hgvs_p": null,
"transcript": "ENST00000527213.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 571,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.*151G>A",
"hgvs_p": null,
"transcript": "ENST00000527433.6",
"protein_id": "ENSP00000490749.1",
"transcript_support_level": 4,
"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": 559,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283341",
"gene_hgnc_id": null,
"hgvs_c": "n.579G>A",
"hgvs_p": null,
"transcript": "ENST00000529261.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 748,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.157G>A",
"hgvs_p": null,
"transcript": "ENST00000532178.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 403,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283341",
"gene_hgnc_id": null,
"hgvs_c": "n.483G>A",
"hgvs_p": null,
"transcript": "ENST00000532864.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 771,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.*151G>A",
"hgvs_p": null,
"transcript": "ENST00000527433.6",
"protein_id": "ENSP00000490749.1",
"transcript_support_level": 4,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.284-17039G>A",
"hgvs_p": null,
"transcript": "ENST00000637401.1",
"protein_id": "ENSP00000490421.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.161-32578G>A",
"hgvs_p": null,
"transcript": "ENST00000636007.1",
"protein_id": "ENSP00000490822.1",
"transcript_support_level": 4,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"dbsnp": "rs569663277",
"frequency_reference_population": 0.000079435515,
"hom_count_reference_population": 2,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000842886,
"gnomad_genomes_af": 0.0000328735,
"gnomad_exomes_ac": 123,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029028773307800293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.1139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.613,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016142.3",
"gene_symbol": "HSD17B12",
"hgnc_id": 18646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Gly121Asp"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000529261.5",
"gene_symbol": "ENSG00000283341",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.579G>A",
"hgvs_p": null
}
],
"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
}