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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: 1-8359808-GCTCCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8359808&ref=GCTCCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8359808,
"ref": "GCTCCTT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_012102.4",
"consequences": [
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del",
"transcript": "NM_001042681.2",
"protein_id": "NP_001036146.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400908.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042681.2"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del",
"transcript": "ENST00000400908.7",
"protein_id": "ENSP00000383700.2",
"transcript_support_level": 1,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042681.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400908.7"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del",
"transcript": "ENST00000337907.7",
"protein_id": "ENSP00000338629.3",
"transcript_support_level": 1,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337907.7"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1906_1911delAAGGAG",
"hgvs_p": "p.Lys636_Glu637del",
"transcript": "ENST00000476556.5",
"protein_id": "ENSP00000422246.1",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1906,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476556.5"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del",
"transcript": "NM_012102.4",
"protein_id": "NP_036234.3",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012102.4"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del",
"transcript": "ENST00000864419.1",
"protein_id": "ENSP00000534478.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1566,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864419.1"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.2764_2769delAAGGAG",
"hgvs_p": "p.Lys922_Glu923del",
"transcript": "ENST00000377464.5",
"protein_id": "ENSP00000366684.1",
"transcript_support_level": 5,
"aa_start": 922,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377464.5"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1906_1911delAAGGAG",
"hgvs_p": "p.Lys636_Glu637del",
"transcript": "NM_001042682.2",
"protein_id": "NP_001036147.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1906,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042682.2"
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1906_1911delAAGGAG",
"hgvs_p": "p.Lys636_Glu637del",
"transcript": "ENST00000465125.2",
"protein_id": "ENSP00000515651.1",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1906,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465125.2"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1541-4215_1541-4210delAAGGAG",
"hgvs_p": null,
"transcript": "ENST00000400907.6",
"protein_id": "ENSP00000383699.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": null,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400907.6"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.307+1646_307+1651delAAGGAG",
"hgvs_p": null,
"transcript": "ENST00000505225.1",
"protein_id": "ENSP00000423451.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505225.1"
}
],
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"dbsnp": "rs147985313",
"frequency_reference_population": 0.0038689927,
"hom_count_reference_population": 23,
"allele_count_reference_population": 6208,
"gnomad_exomes_af": 0.00384434,
"gnomad_genomes_af": 0.00410495,
"gnomad_exomes_ac": 5585,
"gnomad_genomes_ac": 623,
"gnomad_exomes_homalt": 21,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.826,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 17,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012102.4",
"gene_symbol": "RERE",
"hgnc_id": 9965,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3568_3573delAAGGAG",
"hgvs_p": "p.Lys1190_Glu1191del"
}
],
"clinvar_disease": " eye, or heart,Inborn genetic diseases,Neurodevelopmental disorder with or without anomalies of the brain,RERE-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not provided|RERE-related disorder|Inborn genetic diseases|Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}