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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: 4-99340600-GCG-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99340600&ref=GCG&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADH1C",
"hgnc_id": 251,
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000669.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1128,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000669.5",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000515683.6",
"protein_coding": true,
"protein_id": "NP_000660.1",
"strand": false,
"transcript": "NM_000669.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1128,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515683.6",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000669.5",
"protein_coding": true,
"protein_id": "ENSP00000426083.1",
"strand": false,
"transcript": "ENST00000515683.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1128,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865215.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535274.1",
"strand": false,
"transcript": "ENST00000865215.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1128,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865216.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535275.1",
"strand": false,
"transcript": "ENST00000865216.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1128,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865217.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.937_939delCGCinsTTG",
"hgvs_p": "p.Arg313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535276.1",
"strand": false,
"transcript": "ENST00000865217.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1415,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1101,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865222.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.910_912delCGCinsTTG",
"hgvs_p": "p.Arg304Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535281.1",
"strand": false,
"transcript": "ENST00000865222.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 361,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1086,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865220.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.895_897delCGCinsTTG",
"hgvs_p": "p.Arg299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535279.1",
"strand": false,
"transcript": "ENST00000865220.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 361,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1086,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865221.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.895_897delCGCinsTTG",
"hgvs_p": "p.Arg299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535280.1",
"strand": false,
"transcript": "ENST00000865221.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1026,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865218.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.835_837delCGCinsTTG",
"hgvs_p": "p.Arg279Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535277.1",
"strand": false,
"transcript": "ENST00000865218.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 765,
"cds_end": null,
"cds_length": 867,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865219.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.676_678delCGCinsTTG",
"hgvs_p": "p.Arg226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535278.1",
"strand": false,
"transcript": "ENST00000865219.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 254,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": 633,
"cds_end": null,
"cds_length": 765,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865223.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.574_576delCGCinsTTG",
"hgvs_p": "p.Arg192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535282.1",
"strand": false,
"transcript": "ENST00000865223.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 105,
"aa_ref": "R",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 625,
"cdna_start": 182,
"cds_end": null,
"cds_length": 318,
"cds_start": 127,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865224.1",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "c.127_129delCGCinsTTG",
"hgvs_p": "p.Arg43Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535283.1",
"strand": false,
"transcript": "ENST00000865224.1",
"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": 1410,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_133005.2",
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"hgvs_c": "n.964_966delCGCinsTTG",
"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": "NR_133005.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 251,
"gene_symbol": "ADH1C",
"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": "Uncertain_significance",
"phylop100way_score": 5.908,
"pos": 99340600,
"ref": "GCG",
"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_000669.5"
}
]
}