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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: 3-38008257-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38008257&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38008257,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001130964.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2013G>C",
"hgvs_p": "p.Gln671His",
"transcript": "NM_006225.4",
"protein_id": "NP_006216.2",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 756,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334661.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006225.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2013G>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000334661.5",
"protein_id": "ENSP00000335600.4",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 756,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006225.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334661.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2076G>C",
"hgvs_p": "p.Gln692His",
"transcript": "NM_001130964.2",
"protein_id": "NP_001124436.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 777,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130964.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2076G>C",
"hgvs_p": "p.Gln692His",
"transcript": "ENST00000463876.5",
"protein_id": "ENSP00000430344.1",
"transcript_support_level": 2,
"aa_start": 692,
"aa_end": null,
"aa_length": 777,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463876.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2010G>C",
"hgvs_p": "p.Gln670His",
"transcript": "ENST00000956065.1",
"protein_id": "ENSP00000626124.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 755,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956065.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1995G>C",
"hgvs_p": "p.Gln665His",
"transcript": "ENST00000909334.1",
"protein_id": "ENSP00000579393.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 750,
"cds_start": 1995,
"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": "ENST00000909334.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2013G>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000909335.1",
"protein_id": "ENSP00000579394.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 742,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909335.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.2013G>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000909332.1",
"protein_id": "ENSP00000579391.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 729,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909332.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1896G>C",
"hgvs_p": "p.Gln632His",
"transcript": "ENST00000937408.1",
"protein_id": "ENSP00000607467.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 717,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937408.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1863G>C",
"hgvs_p": "p.Gln621His",
"transcript": "ENST00000909333.1",
"protein_id": "ENSP00000579392.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 706,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909333.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1848G>C",
"hgvs_p": "p.Gln616His",
"transcript": "ENST00000909336.1",
"protein_id": "ENSP00000579395.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 701,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909336.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1863G>C",
"hgvs_p": "p.Gln621His",
"transcript": "ENST00000956064.1",
"protein_id": "ENSP00000626123.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 679,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956064.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1680G>C",
"hgvs_p": "p.Gln560His",
"transcript": "ENST00000956063.1",
"protein_id": "ENSP00000626122.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 645,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.79G>C",
"hgvs_p": null,
"transcript": "ENST00000417185.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000417185.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.2736G>C",
"hgvs_p": null,
"transcript": "ENST00000461445.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461445.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.2240G>C",
"hgvs_p": null,
"transcript": "NR_024071.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024071.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.*206G>C",
"hgvs_p": null,
"transcript": "ENST00000484829.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000484829.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.*17G>C",
"hgvs_p": null,
"transcript": "ENST00000495395.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000495395.1"
}
],
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"dbsnp": "rs760117251",
"frequency_reference_population": 0.000005575904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410448,
"gnomad_genomes_af": 0.0000197016,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1461934745311737,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.2089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.098,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001130964.2",
"gene_symbol": "PLCD1",
"hgnc_id": 9060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2076G>C",
"hgvs_p": "p.Gln692His"
}
],
"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
}