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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: 2-37319677-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37319677&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37319677,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_005813.6",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "NM_005813.6",
"protein_id": "NP_005804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234179.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005813.6"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000234179.8",
"protein_id": "ENSP00000234179.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005813.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234179.8"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000933386.1",
"protein_id": "ENSP00000603445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": null,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933386.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000933388.1",
"protein_id": "ENSP00000603447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": null,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933388.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000933387.1",
"protein_id": "ENSP00000603446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": null,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933387.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000933385.1",
"protein_id": "ENSP00000603444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933385.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-768-1778A>T",
"hgvs_p": null,
"transcript": "ENST00000933389.1",
"protein_id": "ENSP00000603448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933389.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000933390.1",
"protein_id": "ENSP00000603449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933390.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-25+5004A>T",
"hgvs_p": null,
"transcript": "ENST00000443187.1",
"protein_id": "ENSP00000401839.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443187.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-655-2498A>T",
"hgvs_p": null,
"transcript": "XM_005264237.5",
"protein_id": "XP_005264294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264237.5"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-768-1778A>T",
"hgvs_p": null,
"transcript": "XM_047443852.1",
"protein_id": "XP_047299808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443852.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-768-1778A>T",
"hgvs_p": null,
"transcript": "XM_047443853.1",
"protein_id": "XP_047299809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443853.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "c.-25+5004A>T",
"hgvs_p": null,
"transcript": "XM_005264238.4",
"protein_id": "XP_005264295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264238.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"hgvs_c": "n.174-2498A>T",
"hgvs_p": null,
"transcript": "ENST00000477132.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477132.1"
}
],
"gene_symbol": "PRKD3",
"gene_hgnc_id": 9408,
"dbsnp": "rs1158219",
"frequency_reference_population": 0.32763287,
"hom_count_reference_population": 8853,
"allele_count_reference_population": 49620,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.327633,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 49620,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8853,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.142,
"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_005813.6",
"gene_symbol": "PRKD3",
"hgnc_id": 9408,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-655-2498A>T",
"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
}