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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: 13-24434567-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=24434567&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 24434567,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006437.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn",
"transcript": "NM_006437.4",
"protein_id": "NP_006428.2",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4574,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381989.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006437.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn",
"transcript": "ENST00000381989.4",
"protein_id": "ENSP00000371419.3",
"transcript_support_level": 1,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4574,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006437.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381989.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn",
"transcript": "ENST00000908086.1",
"protein_id": "ENSP00000578145.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4574,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908086.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn",
"transcript": "ENST00000934618.1",
"protein_id": "ENSP00000604677.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4574,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934618.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4487G>A",
"hgvs_p": "p.Ser1496Asn",
"transcript": "ENST00000908087.1",
"protein_id": "ENSP00000578146.1",
"transcript_support_level": null,
"aa_start": 1496,
"aa_end": null,
"aa_length": 1695,
"cds_start": 4487,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908087.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4436G>A",
"hgvs_p": "p.Ser1479Asn",
"transcript": "ENST00000908088.1",
"protein_id": "ENSP00000578147.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4436,
"cds_end": null,
"cds_length": 5037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908088.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4286G>A",
"hgvs_p": "p.Ser1429Asn",
"transcript": "ENST00000934617.1",
"protein_id": "ENSP00000604676.1",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
"aa_length": 1628,
"cds_start": 4286,
"cds_end": null,
"cds_length": 4887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934617.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"hgvs_c": "c.4283G>A",
"hgvs_p": "p.Ser1428Asn",
"transcript": "ENST00000908089.1",
"protein_id": "ENSP00000578148.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4283,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPTE2P6",
"gene_hgnc_id": 42644,
"hgvs_c": "n.233+25263C>T",
"hgvs_p": null,
"transcript": "ENST00000445572.5",
"protein_id": null,
"transcript_support_level": 6,
"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": "transcribed_unprocessed_pseudogene",
"feature": "ENST00000445572.5"
}
],
"gene_symbol": "PARP4",
"gene_hgnc_id": 271,
"dbsnp": "rs759713523",
"frequency_reference_population": 0.00009050425,
"hom_count_reference_population": 0,
"allele_count_reference_population": 146,
"gnomad_exomes_af": 0.0000958265,
"gnomad_genomes_af": 0.0000394192,
"gnomad_exomes_ac": 140,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06066432595252991,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0849,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_006437.4",
"gene_symbol": "PARP4",
"hgnc_id": 271,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000445572.5",
"gene_symbol": "TPTE2P6",
"hgnc_id": 42644,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.233+25263C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}