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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: 5-84066493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=84066493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 84066493,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005711.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Lys255Lys",
"transcript": "NM_005711.5",
"protein_id": "NP_005702.3",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 480,
"cds_start": 765,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296591.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005711.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Lys255Lys",
"transcript": "ENST00000296591.10",
"protein_id": "ENSP00000296591.4",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 480,
"cds_start": 765,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005711.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296591.10"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.735G>A",
"hgvs_p": "p.Lys245Lys",
"transcript": "ENST00000380138.3",
"protein_id": "ENSP00000369483.3",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 470,
"cds_start": 735,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380138.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Lys253Lys",
"transcript": "ENST00000866584.1",
"protein_id": "ENSP00000536643.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 478,
"cds_start": 759,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866584.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.735G>A",
"hgvs_p": "p.Lys245Lys",
"transcript": "NM_001278642.1",
"protein_id": "NP_001265571.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 470,
"cds_start": 735,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278642.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.711G>A",
"hgvs_p": "p.Lys237Lys",
"transcript": "ENST00000866591.1",
"protein_id": "ENSP00000536650.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 462,
"cds_start": 711,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866591.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Lys227Lys",
"transcript": "ENST00000866590.1",
"protein_id": "ENSP00000536649.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 452,
"cds_start": 681,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866590.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Lys212Lys",
"transcript": "ENST00000866588.1",
"protein_id": "ENSP00000536647.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 437,
"cds_start": 636,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866588.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Lys212Lys",
"transcript": "ENST00000866589.1",
"protein_id": "ENSP00000536648.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 437,
"cds_start": 636,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866589.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.606G>A",
"hgvs_p": "p.Lys202Lys",
"transcript": "ENST00000866585.1",
"protein_id": "ENSP00000536644.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 427,
"cds_start": 606,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.651+40156G>A",
"hgvs_p": null,
"transcript": "ENST00000866587.1",
"protein_id": "ENSP00000536646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "c.621+40156G>A",
"hgvs_p": null,
"transcript": "ENST00000866586.1",
"protein_id": "ENSP00000536645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "ENST00000510271.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000510271.1"
}
],
"gene_symbol": "EDIL3",
"gene_hgnc_id": 3173,
"dbsnp": "rs138920492",
"frequency_reference_population": 6.845686e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84569e-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": -0.25,
"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": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.413,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005711.5",
"gene_symbol": "EDIL3",
"hgnc_id": 3173,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Lys255Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}