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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: 8-30797645-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=30797645&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 30797645,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001009552.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "NM_001009552.2",
"protein_id": "NP_001009552.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 309,
"cds_start": 422,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221138.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009552.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "ENST00000221138.9",
"protein_id": "ENSP00000221138.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 309,
"cds_start": 422,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009552.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221138.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "ENST00000906070.1",
"protein_id": "ENSP00000576129.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 309,
"cds_start": 422,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906070.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "ENST00000966961.1",
"protein_id": "ENSP00000637020.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 279,
"cds_start": 422,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966961.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.251A>T",
"hgvs_p": "p.Asn84Ile",
"transcript": "ENST00000966962.1",
"protein_id": "ENSP00000637021.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 252,
"cds_start": 251,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966962.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.212A>T",
"hgvs_p": "p.Asn71Ile",
"transcript": "ENST00000966963.1",
"protein_id": "ENSP00000637022.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 239,
"cds_start": 212,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966963.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.281A>T",
"hgvs_p": "p.Asn94Ile",
"transcript": "ENST00000518243.5",
"protein_id": "ENSP00000428618.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 183,
"cds_start": 281,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518243.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.227A>T",
"hgvs_p": "p.Asn76Ile",
"transcript": "ENST00000520056.1",
"protein_id": "ENSP00000428866.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 227,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520056.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.312+1901A>T",
"hgvs_p": null,
"transcript": "ENST00000906071.1",
"protein_id": "ENSP00000576130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906071.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"hgvs_c": "c.141+2072A>T",
"hgvs_p": null,
"transcript": "ENST00000518564.1",
"protein_id": "ENSP00000428142.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518564.1"
}
],
"gene_symbol": "PPP2CB",
"gene_hgnc_id": 9300,
"dbsnp": "rs142043612",
"frequency_reference_population": 0.000012392587,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000129991,
"gnomad_genomes_af": 0.00000656927,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5625459551811218,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001009552.2",
"gene_symbol": "PPP2CB",
"hgnc_id": 9300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile"
}
],
"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
}