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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: 8-11786044-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11786044&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11786044,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000284503.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "NM_145043.4",
"protein_id": "NP_659480.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "ENST00000284503.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000284503.7",
"protein_id": "ENSP00000284503.6",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "NM_145043.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000436750.7",
"protein_id": "ENSP00000394023.2",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "NM_001135746.3",
"protein_id": "NP_001129218.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "NM_001349442.2",
"protein_id": "NP_001336371.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000455213.6",
"protein_id": "ENSP00000397538.2",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 332,
"cds_start": 770,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "NM_001135747.3",
"protein_id": "NP_001129219.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 271,
"cds_start": 587,
"cds_end": null,
"cds_length": 816,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "NM_001349439.2",
"protein_id": "NP_001336368.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 271,
"cds_start": 587,
"cds_end": null,
"cds_length": 816,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "NM_001349440.2",
"protein_id": "NP_001336369.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 271,
"cds_start": 587,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "NM_001349441.2",
"protein_id": "NP_001336370.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 271,
"cds_start": 587,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "ENST00000403422.7",
"protein_id": "ENSP00000384070.3",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 271,
"cds_start": 587,
"cds_end": null,
"cds_length": 816,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.422G>C",
"hgvs_p": "p.Arg141Pro",
"transcript": "NM_001135748.3",
"protein_id": "NP_001129220.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 216,
"cds_start": 422,
"cds_end": null,
"cds_length": 651,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "c.422G>C",
"hgvs_p": "p.Arg141Pro",
"transcript": "ENST00000528323.5",
"protein_id": "ENSP00000435657.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 216,
"cds_start": 422,
"cds_end": null,
"cds_length": 651,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.870G>C",
"hgvs_p": null,
"transcript": "ENST00000524741.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.*234G>C",
"hgvs_p": null,
"transcript": "ENST00000528113.5",
"protein_id": "ENSP00000437004.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.1426G>C",
"hgvs_p": null,
"transcript": "NR_146180.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.1593G>C",
"hgvs_p": null,
"transcript": "NR_146181.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.501G>C",
"hgvs_p": null,
"transcript": "NR_146182.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"hgvs_c": "n.*234G>C",
"hgvs_p": null,
"transcript": "ENST00000528113.5",
"protein_id": "ENSP00000437004.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEIL2",
"gene_hgnc_id": 18956,
"dbsnp": "rs8191664",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28551405668258667,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.218,
"revel_prediction": "Benign",
"alphamissense_score": 0.6422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.902,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000284503.7",
"gene_symbol": "NEIL2",
"hgnc_id": 18956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}