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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: 18-58044684-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58044684&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58044684,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001144967.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001144967.3",
"protein_id": "NP_001138439.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 975,
"cds_start": 24,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400345.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144967.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000400345.8",
"protein_id": "ENSP00000383199.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 975,
"cds_start": 24,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144967.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400345.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000382850.8",
"protein_id": "ENSP00000372301.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 955,
"cds_start": 24,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382850.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000356462.10",
"protein_id": "ENSP00000348847.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 911,
"cds_start": 24,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356462.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_015277.6",
"protein_id": "NP_056092.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 955,
"cds_start": 24,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015277.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001243960.2",
"protein_id": "NP_001230889.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 911,
"cds_start": 24,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243960.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000936802.1",
"protein_id": "ENSP00000606861.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 889,
"cds_start": 24,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936802.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000256830.13",
"protein_id": "ENSP00000256830.8",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 871,
"cds_start": 24,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256830.13"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000676024.1",
"protein_id": "ENSP00000502105.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 863,
"cds_start": 24,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676024.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000589054.5",
"protein_id": "ENSP00000465669.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 106,
"cds_start": 24,
"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": "ENST00000589054.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000617539.1",
"protein_id": "ENSP00000479462.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 20,
"cds_start": 24,
"cds_end": null,
"cds_length": 63,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617539.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_006722426.5",
"protein_id": "XP_006722489.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1019,
"cds_start": 24,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722426.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047437406.1",
"protein_id": "XP_047293362.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1001,
"cds_start": 24,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437406.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047437407.1",
"protein_id": "XP_047293363.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 999,
"cds_start": 24,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437407.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_006722428.5",
"protein_id": "XP_006722491.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 993,
"cds_start": 24,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722428.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047437408.1",
"protein_id": "XP_047293364.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 981,
"cds_start": 24,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437408.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_017025678.3",
"protein_id": "XP_016881167.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 973,
"cds_start": 24,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025678.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047437421.1",
"protein_id": "XP_047293377.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 805,
"cds_start": 24,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.24G>T",
"hgvs_p": null,
"transcript": "ENST00000674845.1",
"protein_id": "ENSP00000502309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674845.1"
}
],
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"dbsnp": "rs1484513039",
"frequency_reference_population": 6.876387e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87639e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.124,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001144967.3",
"gene_symbol": "NEDD4L",
"hgnc_id": 7728,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Pro8Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}