← Back to variant description
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: 8-47777808-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47777808&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47777808,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006904.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11920A>G",
"hgvs_p": "p.Met3974Val",
"transcript": "NM_006904.7",
"protein_id": "NP_008835.5",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4128,
"cds_start": 11920,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 11930,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "ENST00000314191.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006904.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11920A>G",
"hgvs_p": "p.Met3974Val",
"transcript": "ENST00000314191.7",
"protein_id": "ENSP00000313420.3",
"transcript_support_level": 1,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4128,
"cds_start": 11920,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 11930,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "NM_006904.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314191.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11827A>G",
"hgvs_p": "p.Met3943Val",
"transcript": "ENST00000338368.7",
"protein_id": "ENSP00000345182.4",
"transcript_support_level": 1,
"aa_start": 3943,
"aa_end": null,
"aa_length": 4097,
"cds_start": 11827,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 11879,
"cdna_end": null,
"cdna_length": 12784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338368.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11929A>G",
"hgvs_p": "p.Met3977Val",
"transcript": "ENST00000911724.1",
"protein_id": "ENSP00000581783.1",
"transcript_support_level": null,
"aa_start": 3977,
"aa_end": null,
"aa_length": 4131,
"cds_start": 11929,
"cds_end": null,
"cds_length": 12396,
"cdna_start": 11958,
"cdna_end": null,
"cdna_length": 13487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911724.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11923A>G",
"hgvs_p": "p.Met3975Val",
"transcript": "ENST00000911723.1",
"protein_id": "ENSP00000581782.1",
"transcript_support_level": null,
"aa_start": 3975,
"aa_end": null,
"aa_length": 4129,
"cds_start": 11923,
"cds_end": null,
"cds_length": 12390,
"cdna_start": 11979,
"cdna_end": null,
"cdna_length": 13511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911723.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11827A>G",
"hgvs_p": "p.Met3943Val",
"transcript": "NM_001081640.2",
"protein_id": "NP_001075109.1",
"transcript_support_level": null,
"aa_start": 3943,
"aa_end": null,
"aa_length": 4097,
"cds_start": 11827,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 11837,
"cdna_end": null,
"cdna_length": 13366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081640.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.4597A>G",
"hgvs_p": "p.Met1533Val",
"transcript": "ENST00000697603.1",
"protein_id": "ENSP00000513358.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1687,
"cds_start": 4597,
"cds_end": null,
"cds_length": 5064,
"cdna_start": 4778,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697603.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Met49Val",
"transcript": "ENST00000536429.1",
"protein_id": "ENSP00000442177.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 89,
"cds_start": 145,
"cds_end": null,
"cds_length": 270,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.328A>G",
"hgvs_p": null,
"transcript": "ENST00000536483.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000536483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.1191A>G",
"hgvs_p": null,
"transcript": "ENST00000697601.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.2493A>G",
"hgvs_p": null,
"transcript": "ENST00000697602.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.1228A>G",
"hgvs_p": null,
"transcript": "ENST00000697604.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.1187A>G",
"hgvs_p": null,
"transcript": "ENST00000697605.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697605.1"
}
],
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"dbsnp": "rs368108772",
"frequency_reference_population": 0.000037174814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000246288,
"gnomad_genomes_af": 0.000157594,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06360810995101929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.629,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006904.7",
"gene_symbol": "PRKDC",
"hgnc_id": 9413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11920A>G",
"hgvs_p": "p.Met3974Val"
}
],
"clinvar_disease": "Severe combined immunodeficiency due to DNA-PKcs deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Severe combined immunodeficiency due to DNA-PKcs deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}