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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: 13-72775221-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=72775221&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 72775221,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014953.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.977C>G",
"hgvs_p": "p.Thr326Arg",
"transcript": "NM_014953.5",
"protein_id": "NP_055768.3",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 958,
"cds_start": 977,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377767.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014953.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.977C>G",
"hgvs_p": "p.Thr326Arg",
"transcript": "ENST00000377767.9",
"protein_id": "ENSP00000366997.4",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 958,
"cds_start": 977,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014953.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377767.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Arg",
"transcript": "ENST00000377780.8",
"protein_id": "ENSP00000367011.4",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 928,
"cds_start": 887,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377780.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Thr164Arg",
"transcript": "ENST00000545453.5",
"protein_id": "ENSP00000440058.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 796,
"cds_start": 491,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545453.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Arg",
"transcript": "NM_001128226.3",
"protein_id": "NP_001121698.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 928,
"cds_start": 887,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128226.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Arg",
"transcript": "ENST00000958787.1",
"protein_id": "ENSP00000628846.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 926,
"cds_start": 887,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958787.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Arg",
"transcript": "ENST00000929767.1",
"protein_id": "ENSP00000599826.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 889,
"cds_start": 887,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929767.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Arg",
"transcript": "NM_001322348.2",
"protein_id": "NP_001309277.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 835,
"cds_start": 608,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322348.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Thr164Arg",
"transcript": "NM_001322349.2",
"protein_id": "NP_001309278.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 796,
"cds_start": 491,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "n.977C>G",
"hgvs_p": null,
"transcript": "ENST00000490646.1",
"protein_id": "ENSP00000436350.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000490646.1"
}
],
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"dbsnp": "rs7332388",
"frequency_reference_population": 0.40508536,
"hom_count_reference_population": 137585,
"allele_count_reference_population": 652616,
"gnomad_exomes_af": 0.398341,
"gnomad_genomes_af": 0.469819,
"gnomad_exomes_ac": 581196,
"gnomad_genomes_ac": 71420,
"gnomad_exomes_homalt": 119244,
"gnomad_genomes_homalt": 18341,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000022935894321562955,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0558,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"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": "NM_014953.5",
"gene_symbol": "DIS3",
"hgnc_id": 20604,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.977C>G",
"hgvs_p": "p.Thr326Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}