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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: 12-109561051-CCGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109561051&ref=CCGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109561051,
"ref": "CCGG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_052845.4",
"consequences": [
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.570_572delCCG",
"hgvs_p": "p.Arg191del",
"transcript": "NM_052845.4",
"protein_id": "NP_443077.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 250,
"cds_start": 570,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000545712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052845.4"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.570_572delCCG",
"hgvs_p": "p.Arg191del",
"transcript": "ENST00000545712.7",
"protein_id": "ENSP00000445920.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 250,
"cds_start": 570,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052845.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545712.7"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.415_417delCCG",
"hgvs_p": "p.Pro139del",
"transcript": "XM_011538267.4",
"protein_id": "XP_011536569.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 165,
"cds_start": 415,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538267.4"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.633_635delCCG",
"hgvs_p": "p.Arg212del",
"transcript": "ENST00000878519.1",
"protein_id": "ENSP00000548578.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 271,
"cds_start": 633,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878519.1"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.570_572delCCG",
"hgvs_p": "p.Arg191del",
"transcript": "ENST00000878520.1",
"protein_id": "ENSP00000548579.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 230,
"cds_start": 570,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878520.1"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.414_416delCCG",
"hgvs_p": "p.Arg139del",
"transcript": "ENST00000540016.5",
"protein_id": "ENSP00000474582.1",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 198,
"cds_start": 414,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540016.5"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.297_299delCCG",
"hgvs_p": "p.Arg100del",
"transcript": "XM_047428770.1",
"protein_id": "XP_047284726.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 159,
"cds_start": 297,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428770.1"
},
{
"aa_ref": "RR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.294_296delCCG",
"hgvs_p": "p.Arg99del",
"transcript": "XM_011538269.3",
"protein_id": "XP_011536571.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 158,
"cds_start": 294,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538269.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*135_*137delCCG",
"hgvs_p": null,
"transcript": "ENST00000537496.5",
"protein_id": "ENSP00000444793.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000537496.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*273_*275delCCG",
"hgvs_p": null,
"transcript": "ENST00000541763.6",
"protein_id": "ENSP00000474981.1",
"transcript_support_level": 3,
"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": "ENST00000541763.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*451_*453delCCG",
"hgvs_p": null,
"transcript": "ENST00000544051.5",
"protein_id": "ENSP00000438079.1",
"transcript_support_level": 3,
"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": "ENST00000544051.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.681_683delCCG",
"hgvs_p": null,
"transcript": "NR_038118.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_038118.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*135_*137delCCG",
"hgvs_p": null,
"transcript": "ENST00000537496.5",
"protein_id": "ENSP00000444793.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000537496.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*273_*275delCCG",
"hgvs_p": null,
"transcript": "ENST00000541763.6",
"protein_id": "ENSP00000474981.1",
"transcript_support_level": 3,
"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": "ENST00000541763.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.*451_*453delCCG",
"hgvs_p": null,
"transcript": "ENST00000544051.5",
"protein_id": "ENSP00000438079.1",
"transcript_support_level": 3,
"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": "ENST00000544051.5"
}
],
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"dbsnp": "rs864309512",
"frequency_reference_population": 6.855974e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85597e-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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.667,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052845.4",
"gene_symbol": "MMAB",
"hgnc_id": 19331,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.570_572delCCG",
"hgvs_p": "p.Arg191del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}