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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: 19-48813260-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48813260&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48813260,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016246.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "NM_016246.3",
"protein_id": "NP_057330.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 270,
"cds_start": 728,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263278.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016246.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "ENST00000263278.9",
"protein_id": "ENSP00000263278.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 270,
"cds_start": 728,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016246.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263278.9"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.854T>G",
"hgvs_p": "p.Leu285Arg",
"transcript": "ENST00000867480.1",
"protein_id": "ENSP00000537539.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 312,
"cds_start": 854,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867480.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.737T>G",
"hgvs_p": "p.Leu246Arg",
"transcript": "ENST00000867481.1",
"protein_id": "ENSP00000537540.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 273,
"cds_start": 737,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867481.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000867483.1",
"protein_id": "ENSP00000537542.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 272,
"cds_start": 734,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867483.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.731T>G",
"hgvs_p": "p.Leu244Arg",
"transcript": "ENST00000867479.1",
"protein_id": "ENSP00000537538.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 271,
"cds_start": 731,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867479.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "ENST00000867478.1",
"protein_id": "ENSP00000537537.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 270,
"cds_start": 728,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867478.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.656T>G",
"hgvs_p": "p.Leu219Arg",
"transcript": "ENST00000599157.5",
"protein_id": "ENSP00000472746.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 246,
"cds_start": 656,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599157.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.623T>G",
"hgvs_p": "p.Leu208Arg",
"transcript": "ENST00000867482.1",
"protein_id": "ENSP00000537541.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 235,
"cds_start": 623,
"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": "ENST00000867482.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.569T>G",
"hgvs_p": "p.Leu190Arg",
"transcript": "ENST00000867477.1",
"protein_id": "ENSP00000537536.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 217,
"cds_start": 569,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867477.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.563T>G",
"hgvs_p": "p.Leu188Arg",
"transcript": "ENST00000931891.1",
"protein_id": "ENSP00000601950.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 215,
"cds_start": 563,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931891.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.523T>G",
"hgvs_p": "p.Cys175Gly",
"transcript": "ENST00000595764.1",
"protein_id": "ENSP00000469557.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 176,
"cds_start": 523,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595764.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.404T>G",
"hgvs_p": "p.Leu135Arg",
"transcript": "ENST00000931892.1",
"protein_id": "ENSP00000601951.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 162,
"cds_start": 404,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931892.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.313T>G",
"hgvs_p": "p.Cys105Gly",
"transcript": "ENST00000596349.5",
"protein_id": "ENSP00000471631.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 106,
"cds_start": 313,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596349.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.631T>G",
"hgvs_p": "p.Cys211Gly",
"transcript": "XM_005258969.5",
"protein_id": "XP_005259026.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 212,
"cds_start": 631,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258969.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"hgvs_c": "c.*320T>G",
"hgvs_p": null,
"transcript": "XM_047438897.1",
"protein_id": "XP_047294853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438897.1"
}
],
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"dbsnp": "rs749090139",
"frequency_reference_population": 0.00002472395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.000024724,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.882972240447998,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.519,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8432,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.415,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016246.3",
"gene_symbol": "HSD17B14",
"hgnc_id": 23238,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg"
}
],
"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
}