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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: 16-89637957-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89637957&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89637957,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000690203.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389466.1",
"protein_id": "NP_001376395.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": "ENST00000690203.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000690203.1",
"protein_id": "ENSP00000508584.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": "NM_001389466.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000261615.5",
"protein_id": "ENSP00000261615.4",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000393092.7",
"protein_id": "ENSP00000376807.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001128141.3",
"protein_id": "NP_001121613.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389467.1",
"protein_id": "NP_001376396.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389468.1",
"protein_id": "NP_001376397.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389469.1",
"protein_id": "NP_001376398.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_004413.4",
"protein_id": "NP_004404.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000421184.5",
"protein_id": "ENSP00000397313.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389470.1",
"protein_id": "NP_001376399.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 358,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_001389471.1",
"protein_id": "NP_001376400.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 358,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "XM_047433690.1",
"protein_id": "XP_047289646.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "XM_047433693.1",
"protein_id": "XP_047289649.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 411,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "XM_024450173.2",
"protein_id": "XP_024305941.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 366,
"cds_start": 916,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "XM_047433691.1",
"protein_id": "XP_047289647.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 358,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 2312,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "n.1411G>A",
"hgvs_p": null,
"transcript": "ENST00000564281.5",
"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": 1772,
"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": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "n.254G>A",
"hgvs_p": null,
"transcript": "ENST00000564645.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"dbsnp": "rs1126464",
"frequency_reference_population": 0.000003732699,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000274831,
"gnomad_genomes_af": 0.0000131601,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03682836890220642,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.1113,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.001,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000690203.1",
"gene_symbol": "DPEP1",
"hgnc_id": 3002,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}