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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: 16-84849496-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84849496&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84849496,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262424.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "NM_031476.4",
"protein_id": "NP_113664.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 497,
"cds_start": 471,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": "ENST00000262424.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000262424.10",
"protein_id": "ENSP00000262424.5",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 497,
"cds_start": 471,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": "NM_031476.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000564567.5",
"protein_id": "ENSP00000457655.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 449,
"cds_start": 471,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000567845.5",
"protein_id": "ENSP00000457183.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 496,
"cds_start": 471,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "XM_005256190.2",
"protein_id": "XP_005256247.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 497,
"cds_start": 471,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4842,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "n.687C>T",
"hgvs_p": null,
"transcript": "ENST00000566431.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1083,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "n.662C>T",
"hgvs_p": null,
"transcript": "ENST00000569262.5",
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.-1C>T",
"hgvs_p": null,
"transcript": "ENST00000563066.5",
"protein_id": "ENSP00000456952.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"hgvs_c": "c.-1C>T",
"hgvs_p": null,
"transcript": "ENST00000566789.1",
"protein_id": "ENSP00000457259.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285848",
"gene_hgnc_id": null,
"hgvs_c": "n.373-662G>A",
"hgvs_p": null,
"transcript": "ENST00000648152.1",
"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": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRISPLD2",
"gene_hgnc_id": 25248,
"dbsnp": "rs8061351",
"frequency_reference_population": 0.71628714,
"hom_count_reference_population": 420683,
"allele_count_reference_population": 1155874,
"gnomad_exomes_af": 0.726683,
"gnomad_genomes_af": 0.616416,
"gnomad_exomes_ac": 1062095,
"gnomad_genomes_ac": 93779,
"gnomad_exomes_homalt": 389534,
"gnomad_genomes_homalt": 31149,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.098,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262424.10",
"gene_symbol": "CRISPLD2",
"hgnc_id": 25248,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000648152.1",
"gene_symbol": "ENSG00000285848",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.373-662G>A",
"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
}