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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: 8-54616061-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=54616061&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 54616061,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.-12-4894T>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": null,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375654.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.-12-4894T>C",
"hgvs_p": null,
"transcript": "ENST00000636932.1",
"protein_id": "ENSP00000489857.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": null,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636932.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>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": null,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422069.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>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": null,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422070.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>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": null,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422071.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>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": null,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422072.1"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>C",
"hgvs_p": null,
"transcript": "XM_047422073.1",
"protein_id": "XP_047278029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422073.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.10-4894T>C",
"hgvs_p": null,
"transcript": "XM_047422074.1",
"protein_id": "XP_047278030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": null,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.-154T>C",
"hgvs_p": null,
"transcript": "NM_006269.2",
"protein_id": "NP_006260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2156,
"cds_start": null,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220676.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006269.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.-154T>C",
"hgvs_p": null,
"transcript": "ENST00000220676.2",
"protein_id": "ENSP00000220676.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2156,
"cds_start": null,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006269.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"hgvs_c": "c.-154T>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": null,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637698.1"
}
],
"gene_symbol": "RP1",
"gene_hgnc_id": 10263,
"dbsnp": "rs74632105",
"frequency_reference_population": 0.042234566,
"hom_count_reference_population": 451,
"allele_count_reference_population": 6433,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0422346,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 6433,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 451,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.253,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_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.-12-4894T>C",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Retinitis Pigmentosa,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Retinitis Pigmentosa, Dominant|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}