← Back to variant description
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: 19-48813288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48813288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48813288,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016246.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "NM_016246.3",
"protein_id": "NP_057330.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 270,
"cds_start": 700,
"cds_end": null,
"cds_length": 813,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": "ENST00000263278.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016246.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000263278.9",
"protein_id": "ENSP00000263278.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 270,
"cds_start": 700,
"cds_end": null,
"cds_length": 813,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": "NM_016246.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263278.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.826G>A",
"hgvs_p": "p.Glu276Lys",
"transcript": "ENST00000867480.1",
"protein_id": "ENSP00000537539.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 312,
"cds_start": 826,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867480.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.709G>A",
"hgvs_p": "p.Glu237Lys",
"transcript": "ENST00000867481.1",
"protein_id": "ENSP00000537540.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 273,
"cds_start": 709,
"cds_end": null,
"cds_length": 822,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867481.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.706G>A",
"hgvs_p": "p.Glu236Lys",
"transcript": "ENST00000867483.1",
"protein_id": "ENSP00000537542.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 272,
"cds_start": 706,
"cds_end": null,
"cds_length": 819,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867483.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.703G>A",
"hgvs_p": "p.Glu235Lys",
"transcript": "ENST00000867479.1",
"protein_id": "ENSP00000537538.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 271,
"cds_start": 703,
"cds_end": null,
"cds_length": 816,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867479.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000867478.1",
"protein_id": "ENSP00000537537.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 270,
"cds_start": 700,
"cds_end": null,
"cds_length": 813,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867478.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.628G>A",
"hgvs_p": "p.Glu210Lys",
"transcript": "ENST00000599157.5",
"protein_id": "ENSP00000472746.1",
"transcript_support_level": 3,
"aa_start": 210,
"aa_end": null,
"aa_length": 246,
"cds_start": 628,
"cds_end": null,
"cds_length": 741,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599157.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.595G>A",
"hgvs_p": "p.Glu199Lys",
"transcript": "ENST00000867482.1",
"protein_id": "ENSP00000537541.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 235,
"cds_start": 595,
"cds_end": null,
"cds_length": 708,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867482.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000867477.1",
"protein_id": "ENSP00000537536.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 217,
"cds_start": 541,
"cds_end": null,
"cds_length": 654,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867477.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.535G>A",
"hgvs_p": "p.Glu179Lys",
"transcript": "ENST00000931891.1",
"protein_id": "ENSP00000601950.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 215,
"cds_start": 535,
"cds_end": null,
"cds_length": 648,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931891.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.376G>A",
"hgvs_p": "p.Glu126Lys",
"transcript": "ENST00000931892.1",
"protein_id": "ENSP00000601951.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 376,
"cds_end": null,
"cds_length": 489,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931892.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.495G>A",
"hgvs_p": "p.Pro165Pro",
"transcript": "ENST00000595764.1",
"protein_id": "ENSP00000469557.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 495,
"cds_end": null,
"cds_length": 531,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595764.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.285G>A",
"hgvs_p": "p.Pro95Pro",
"transcript": "ENST00000596349.5",
"protein_id": "ENSP00000471631.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 106,
"cds_start": 285,
"cds_end": null,
"cds_length": 321,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596349.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.603G>A",
"hgvs_p": "p.Pro201Pro",
"transcript": "XM_005258969.5",
"protein_id": "XP_005259026.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 212,
"cds_start": 603,
"cds_end": null,
"cds_length": 639,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 953,
"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.*292G>A",
"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": 623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438897.1"
}
],
"gene_symbol": "HSD17B14",
"gene_hgnc_id": 23238,
"dbsnp": "rs1400589983",
"frequency_reference_population": 0.000006893034,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000689303,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4436485171318054,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.4009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.611,
"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": 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": "NM_016246.3",
"gene_symbol": "HSD17B14",
"hgnc_id": 23238,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys"
}
],
"clinvar_disease": "High myopia,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "High myopia|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}