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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: 6-127991943-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127991943&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127991943,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000368226.9",
"consequences": [
{
"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": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2882-552T>C",
"hgvs_p": null,
"transcript": "NM_002844.4",
"protein_id": "NP_002835.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1440,
"cds_start": -4,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": "ENST00000368226.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2882-552T>C",
"hgvs_p": null,
"transcript": "ENST00000368226.9",
"protein_id": "ENSP00000357209.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1440,
"cds_start": -4,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": "NM_002844.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2948-552T>C",
"hgvs_p": null,
"transcript": "ENST00000532331.5",
"protein_id": "ENSP00000432973.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2900-552T>C",
"hgvs_p": null,
"transcript": "ENST00000368213.9",
"protein_id": "ENSP00000357196.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1446,
"cds_start": -4,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2879-552T>C",
"hgvs_p": null,
"transcript": "ENST00000368215.7",
"protein_id": "ENSP00000357198.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": -4,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2978-552T>C",
"hgvs_p": null,
"transcript": "ENST00000368207.7",
"protein_id": "ENSP00000357190.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": -4,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2948-552T>C",
"hgvs_p": null,
"transcript": "NM_001291981.2",
"protein_id": "NP_001278910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2936-552T>C",
"hgvs_p": null,
"transcript": "ENST00000368210.7",
"protein_id": "ENSP00000357193.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1458,
"cds_start": -4,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2900-552T>C",
"hgvs_p": null,
"transcript": "NM_001135648.3",
"protein_id": "NP_001129120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1446,
"cds_start": -4,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2879-552T>C",
"hgvs_p": null,
"transcript": "NM_001291984.2",
"protein_id": "NP_001278913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": -4,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.758-552T>C",
"hgvs_p": null,
"transcript": "ENST00000415046.6",
"protein_id": "ENSP00000406825.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.659-552T>C",
"hgvs_p": null,
"transcript": "ENST00000415055.2",
"protein_id": "ENSP00000408180.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"dbsnp": "rs3903663",
"frequency_reference_population": 0.21626984,
"hom_count_reference_population": 4506,
"allele_count_reference_population": 32809,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.21627,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 32809,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4506,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.451,
"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": -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": "ENST00000368226.9",
"gene_symbol": "PTPRK",
"hgnc_id": 9674,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2882-552T>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
}