← 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: 3-38009945-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38009945&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38009945,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001130964.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "NM_006225.4",
"protein_id": "NP_006216.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 756,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000334661.5",
"protein_id": "ENSP00000335600.4",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 756,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "NM_001130964.2",
"protein_id": "NP_001124436.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 777,
"cds_start": 1309,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000463876.5",
"protein_id": "ENSP00000430344.1",
"transcript_support_level": 2,
"aa_start": 437,
"aa_end": null,
"aa_length": 777,
"cds_start": 1309,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000956065.1",
"protein_id": "ENSP00000626124.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 755,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Arg410*",
"transcript": "ENST00000909334.1",
"protein_id": "ENSP00000579393.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 750,
"cds_start": 1228,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000909335.1",
"protein_id": "ENSP00000579394.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 742,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000909332.1",
"protein_id": "ENSP00000579391.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 729,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000937408.1",
"protein_id": "ENSP00000607467.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 717,
"cds_start": 1246,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361*",
"transcript": "ENST00000909336.1",
"protein_id": "ENSP00000579395.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 701,
"cds_start": 1081,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1138-134C>T",
"hgvs_p": null,
"transcript": "ENST00000909333.1",
"protein_id": "ENSP00000579392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.1138-134C>T",
"hgvs_p": null,
"transcript": "ENST00000956064.1",
"protein_id": "ENSP00000626123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "c.955-134C>T",
"hgvs_p": null,
"transcript": "ENST00000956063.1",
"protein_id": "ENSP00000626122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.1343C>T",
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.393C>T",
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.1473C>T",
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"hgvs_c": "n.-62C>T",
"hgvs_p": null,
"transcript": "ENST00000495367.1",
"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": "ENST00000495367.1"
}
],
"gene_symbol": "PLCD1",
"gene_hgnc_id": 9060,
"dbsnp": "rs397514470",
"frequency_reference_population": 0.000016737937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000164295,
"gnomad_genomes_af": 0.0000196956,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28999999165534973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.939,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001130964.2",
"gene_symbol": "PLCD1",
"hgnc_id": 9060,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*"
}
],
"clinvar_disease": "Nonsyndromic congenital nail disorder 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nonsyndromic congenital nail disorder 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}