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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: 5-170795412-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=170795412&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 170795412,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014211.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "NM_014211.3",
"protein_id": "NP_055026.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 440,
"cds_start": 445,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265294.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014211.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000265294.9",
"protein_id": "ENSP00000265294.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 440,
"cds_start": 445,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014211.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265294.9"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000518525.5",
"protein_id": "ENSP00000430100.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 440,
"cds_start": 445,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518525.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000862231.1",
"protein_id": "ENSP00000532290.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 440,
"cds_start": 445,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862231.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000519598.1",
"protein_id": "ENSP00000430772.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 349,
"cds_start": 445,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519598.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "NM_001291985.2",
"protein_id": "NP_001278914.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 289,
"cds_start": 445,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291985.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000519385.5",
"protein_id": "ENSP00000430727.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 289,
"cds_start": 445,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519385.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000522868.5",
"protein_id": "ENSP00000430188.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 188,
"cds_start": 445,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522868.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "ENST00000521481.5",
"protein_id": "ENSP00000428804.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 170,
"cds_start": 445,
"cds_end": null,
"cds_length": 514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521481.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met",
"transcript": "XM_024446012.2",
"protein_id": "XP_024301780.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 440,
"cds_start": 445,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446012.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.208C>A",
"hgvs_p": "p.Leu70Met",
"transcript": "XM_005265872.2",
"protein_id": "XP_005265929.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 361,
"cds_start": 208,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265872.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"hgvs_c": "c.*168C>A",
"hgvs_p": null,
"transcript": "ENST00000521009.5",
"protein_id": "ENSP00000428103.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521009.5"
}
],
"gene_symbol": "GABRP",
"gene_hgnc_id": 4089,
"dbsnp": "rs377558484",
"frequency_reference_population": 0.000011629801,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116298,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7809826731681824,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.623,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.345,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014211.3",
"gene_symbol": "GABRP",
"hgnc_id": 4089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Leu149Met"
}
],
"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
}