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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: 8-54846379-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=54846379&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 54846379,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001375654.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3836-6195T>C",
"hgvs_p": null,
"transcript": "ENST00000637698.1",
"protein_id": "ENSP00000490104.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3737-6195T>C",
"hgvs_p": null,
"transcript": "NM_001375654.1",
"protein_id": "NP_001362583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1383,
"cds_start": -4,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "n.715-6195T>C",
"hgvs_p": null,
"transcript": "ENST00000650534.1",
"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": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3857-6195T>C",
"hgvs_p": null,
"transcript": "XM_047422069.1",
"protein_id": "XP_047278025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1423,
"cds_start": -4,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3854-6195T>C",
"hgvs_p": null,
"transcript": "XM_047422070.1",
"protein_id": "XP_047278026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1422,
"cds_start": -4,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3854-6195T>C",
"hgvs_p": null,
"transcript": "XM_047422071.1",
"protein_id": "XP_047278027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1422,
"cds_start": -4,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.3758-6195T>C",
"hgvs_p": null,
"transcript": "XM_047422072.1",
"protein_id": "XP_047278028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": -4,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.2117-6195T>C",
"hgvs_p": null,
"transcript": "XM_017014158.2",
"protein_id": "XP_016869647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"dbsnp": "rs16920830",
"frequency_reference_population": 0.058106385,
"hom_count_reference_population": 822,
"allele_count_reference_population": 8846,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0581064,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 8846,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 822,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.601,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001375654.1",
"gene_symbol": "RP1",
"hgnc_id": 10263,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.3737-6195T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}