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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: 17-41968309-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41968309&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41968309,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033133.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Ser82Leu",
"transcript": "NM_033133.5",
"protein_id": "NP_149124.3",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 421,
"cds_start": 245,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393892.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033133.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Ser82Leu",
"transcript": "ENST00000393892.8",
"protein_id": "ENSP00000377470.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 421,
"cds_start": 245,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033133.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393892.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "ENST00000393888.1",
"protein_id": "ENSP00000377466.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 401,
"cds_start": 185,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393888.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "NM_001330216.2",
"protein_id": "NP_001317145.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 401,
"cds_start": 185,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330216.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ser45Leu",
"transcript": "ENST00000587679.1",
"protein_id": "ENSP00000468198.1",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 163,
"cds_start": 134,
"cds_end": null,
"cds_length": 494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587679.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "ENST00000585452.1",
"protein_id": "ENSP00000468471.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 152,
"cds_start": 185,
"cds_end": null,
"cds_length": 461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585452.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "ENST00000441615.2",
"protein_id": "ENSP00000413104.2",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 143,
"cds_start": 185,
"cds_end": null,
"cds_length": 433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441615.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "ENST00000589772.1",
"protein_id": "ENSP00000466807.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 119,
"cds_start": 185,
"cds_end": null,
"cds_length": 362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589772.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ser62Leu",
"transcript": "XM_011524340.3",
"protein_id": "XP_011522642.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 401,
"cds_start": 185,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524340.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.3+1422C>T",
"hgvs_p": null,
"transcript": "ENST00000472031.1",
"protein_id": "ENSP00000467641.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": null,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"transcript": "ENST00000592446.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000592446.1"
},
{
"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": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"transcript": "ENST00000591945.1",
"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": "pseudogene",
"feature": "ENST00000591945.1"
}
],
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"dbsnp": "rs2050933471",
"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": 0.6778979897499084,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4313,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.982,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033133.5",
"gene_symbol": "CNP",
"hgnc_id": 2158,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Ser82Leu"
}
],
"clinvar_disease": " 20, hypomyelinating,Leukodystrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Leukodystrophy, hypomyelinating, 20",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}