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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: 5-83641562-GCG-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=83641562&ref=GCG&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HAPLN1",
"hgnc_id": 2380,
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001884.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001884.4",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000274341.9",
"protein_coding": true,
"protein_id": "NP_001875.1",
"strand": false,
"transcript": "NM_001884.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000274341.9",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001884.4",
"protein_coding": true,
"protein_id": "ENSP00000274341.4",
"strand": false,
"transcript": "ENST00000274341.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875523.1",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545582.1",
"strand": false,
"transcript": "ENST00000875523.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936313.1",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606372.1",
"strand": false,
"transcript": "ENST00000936313.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936314.1",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606373.1",
"strand": false,
"transcript": "ENST00000936314.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543168.3",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541470.1",
"strand": false,
"transcript": "XM_011543168.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009051.2",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864540.1",
"strand": false,
"transcript": "XM_017009051.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4869,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1065,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009052.2",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.997_999delCGCinsTTG",
"hgvs_p": "p.Arg333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864541.1",
"strand": false,
"transcript": "XM_017009052.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1062,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009053.2",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.994_996delCGCinsTTG",
"hgvs_p": "p.Arg332Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864542.1",
"strand": false,
"transcript": "XM_017009053.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5001,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1062,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009054.3",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.994_996delCGCinsTTG",
"hgvs_p": "p.Arg332Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864543.1",
"strand": false,
"transcript": "XM_017009054.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1062,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416737.1",
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"hgvs_c": "c.994_996delCGCinsTTG",
"hgvs_p": "p.Arg332Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272693.1",
"strand": false,
"transcript": "XM_047416737.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2380,
"gene_symbol": "HAPLN1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"pos": 83641562,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001884.4"
}
]
}