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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: 1-35736993-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35736993&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 35736993,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022111.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3830C>T",
"hgvs_p": "p.Pro1277Leu",
"transcript": "NM_022111.4",
"protein_id": "NP_071394.2",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": "ENST00000318121.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022111.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3830C>T",
"hgvs_p": "p.Pro1277Leu",
"transcript": "ENST00000318121.8",
"protein_id": "ENSP00000312995.3",
"transcript_support_level": 1,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": "NM_022111.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318121.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3830C>T",
"hgvs_p": "p.Pro1277Leu",
"transcript": "ENST00000251195.9",
"protein_id": "ENSP00000251195.5",
"transcript_support_level": 1,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3830,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3927,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251195.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3671C>T",
"hgvs_p": "p.Pro1224Leu",
"transcript": "ENST00000520551.1",
"protein_id": "ENSP00000428848.1",
"transcript_support_level": 1,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3671,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520551.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3638C>T",
"hgvs_p": "p.Pro1213Leu",
"transcript": "ENST00000373220.7",
"protein_id": "ENSP00000362317.3",
"transcript_support_level": 1,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3696,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373220.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3818C>T",
"hgvs_p": "p.Pro1273Leu",
"transcript": "ENST00000939005.1",
"protein_id": "ENSP00000609064.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1335,
"cds_start": 3818,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939005.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3815C>T",
"hgvs_p": "p.Pro1272Leu",
"transcript": "ENST00000939006.1",
"protein_id": "ENSP00000609065.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3815,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939006.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3830C>T",
"hgvs_p": "p.Pro1277Leu",
"transcript": "NM_001330490.2",
"protein_id": "NP_001317419.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3830,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330490.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "c.3638C>T",
"hgvs_p": "p.Pro1213Leu",
"transcript": "NM_001190481.2",
"protein_id": "NP_001177410.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3746,
"cdna_end": null,
"cdna_length": 8320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190481.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"hgvs_c": "n.312C>T",
"hgvs_p": null,
"transcript": "ENST00000466308.1",
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466308.1"
}
],
"gene_symbol": "CLSPN",
"gene_hgnc_id": 19715,
"dbsnp": "rs772615866",
"frequency_reference_population": 0.000035315592,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000355718,
"gnomad_genomes_af": 0.000032855,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3689805865287781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.356,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022111.4",
"gene_symbol": "CLSPN",
"hgnc_id": 19715,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3830C>T",
"hgvs_p": "p.Pro1277Leu"
}
],
"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
}