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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: 14-57232708-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57232708&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC5",
"hgnc_id": 10696,
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006544.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 708,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10486,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 2127,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006544.4",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000621441.5",
"protein_coding": true,
"protein_id": "NP_006535.1",
"strand": false,
"transcript": "NM_006544.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 708,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10486,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 2127,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621441.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006544.4",
"protein_coding": true,
"protein_id": "ENSP00000484855.1",
"strand": false,
"transcript": "ENST00000621441.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 746,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854286.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1010_1011delATinsGC",
"hgvs_p": "p.Asp337Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524345.1",
"strand": false,
"transcript": "ENST00000854286.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 707,
"aa_ref": "D",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 2124,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854289.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.893_894delATinsGC",
"hgvs_p": "p.Asp298Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524348.1",
"strand": false,
"transcript": "ENST00000854289.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 703,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 2112,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970531.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640590.1",
"strand": false,
"transcript": "ENST00000970531.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 702,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 2109,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854290.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524349.1",
"strand": false,
"transcript": "ENST00000854290.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 679,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 2040,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970530.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.896_897delATinsGC",
"hgvs_p": "p.Asp299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640589.1",
"strand": false,
"transcript": "ENST00000970530.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 643,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1932,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340918.11",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.701_702delATinsGC",
"hgvs_p": "p.Asp234Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342100.7",
"strand": false,
"transcript": "ENST00000340918.11",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 634,
"aa_ref": "D",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1905,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854291.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.674_675delATinsGC",
"hgvs_p": "p.Asp225Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524350.1",
"strand": false,
"transcript": "ENST00000854291.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 575,
"aa_ref": "D",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1728,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854287.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.497_498delATinsGC",
"hgvs_p": "p.Asp166Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524346.1",
"strand": false,
"transcript": "ENST00000854287.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 710,
"cds_end": null,
"cds_length": 1689,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854288.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Asp153Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524347.1",
"strand": false,
"transcript": "ENST00000854288.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 746,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10600,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005267272.4",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1010_1011delATinsGC",
"hgvs_p": "p.Asp337Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267329.1",
"strand": false,
"transcript": "XM_005267272.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 653,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10322,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1962,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430882.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.731_732delATinsGC",
"hgvs_p": "p.Asp244Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286838.1",
"strand": false,
"transcript": "XM_047430882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000554934.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.515_516delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554934.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000555148.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.*730_*731delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451082.1",
"strand": false,
"transcript": "ENST00000555148.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000556629.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.506_507delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000556629.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000555148.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.*730_*731delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451082.1",
"strand": false,
"transcript": "ENST00000555148.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"pos": 57232708,
"ref": "AT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006544.4"
}
]
}