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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: 15-38349482-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=38349482&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 38349482,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_152594.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "NM_152594.3",
"protein_id": "NP_689807.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 444,
"cds_start": 643,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299084.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152594.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "ENST00000299084.9",
"protein_id": "ENSP00000299084.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 444,
"cds_start": 643,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152594.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299084.9"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Gln227*",
"transcript": "ENST00000881380.1",
"protein_id": "ENSP00000551439.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 456,
"cds_start": 679,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881380.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "ENST00000951939.1",
"protein_id": "ENSP00000621998.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 451,
"cds_start": 664,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951939.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "ENST00000925370.1",
"protein_id": "ENSP00000595429.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 444,
"cds_start": 643,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925370.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Gln213*",
"transcript": "ENST00000881381.1",
"protein_id": "ENSP00000551440.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 442,
"cds_start": 637,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881381.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Gln162*",
"transcript": "ENST00000951938.1",
"protein_id": "ENSP00000621997.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 391,
"cds_start": 484,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951938.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Gln143*",
"transcript": "ENST00000951940.1",
"protein_id": "ENSP00000621999.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 372,
"cds_start": 427,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951940.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Gln90*",
"transcript": "ENST00000951937.1",
"protein_id": "ENSP00000621996.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 319,
"cds_start": 268,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951937.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Gln227*",
"transcript": "XM_005254202.4",
"protein_id": "XP_005254259.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 456,
"cds_start": 679,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254202.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Gln194*",
"transcript": "XM_047432199.1",
"protein_id": "XP_047288155.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 423,
"cds_start": 580,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432199.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Gln194*",
"transcript": "XM_047432200.1",
"protein_id": "XP_047288156.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 423,
"cds_start": 580,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432200.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Gln194*",
"transcript": "XM_047432201.1",
"protein_id": "XP_047288157.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 423,
"cds_start": 580,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432201.1"
}
],
"gene_symbol": "SPRED1",
"gene_hgnc_id": 20249,
"dbsnp": "rs121434314",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"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": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.534,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_152594.3",
"gene_symbol": "SPRED1",
"hgnc_id": 20249,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*"
}
],
"clinvar_disease": "Legius syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Legius syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}