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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: 20-44257282-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44257282&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44257282,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001256737.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "NM_024034.6",
"protein_id": "NP_076939.3",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 367,
"cds_start": 310,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342560.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024034.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000342560.10",
"protein_id": "ENSP00000341782.5",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 367,
"cds_start": 310,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024034.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342560.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "NM_001256737.2",
"protein_id": "NP_001243666.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 386,
"cds_start": 310,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256737.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000537864.5",
"protein_id": "ENSP00000440498.2",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 386,
"cds_start": 310,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537864.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000902255.1",
"protein_id": "ENSP00000572314.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 310,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902255.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000936870.1",
"protein_id": "ENSP00000606929.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 318,
"cds_start": 310,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936870.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "NM_001256739.3",
"protein_id": "NP_001243668.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 309,
"cds_start": 310,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256739.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "NM_001256740.2",
"protein_id": "NP_001243669.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 296,
"cds_start": 310,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256740.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000612599.4",
"protein_id": "ENSP00000480502.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 296,
"cds_start": 310,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612599.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000438466.5",
"protein_id": "ENSP00000392881.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 287,
"cds_start": 310,
"cds_end": null,
"cds_length": 865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438466.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "NM_001256738.2",
"protein_id": "NP_001243667.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 278,
"cds_start": 43,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256738.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "ENST00000617075.4",
"protein_id": "ENSP00000478701.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 278,
"cds_start": 43,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617075.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.148C>G",
"hgvs_p": "p.Arg50Gly",
"transcript": "ENST00000445952.2",
"protein_id": "ENSP00000404128.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 250,
"cds_start": 148,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445952.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly",
"transcript": "ENST00000372952.7",
"protein_id": "ENSP00000362043.3",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 147,
"cds_start": 310,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372952.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"hgvs_c": "n.208-5948C>G",
"hgvs_p": null,
"transcript": "NR_046353.3",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_046353.3"
}
],
"gene_symbol": "GDAP1L1",
"gene_hgnc_id": 4213,
"dbsnp": "rs950065093",
"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": 0.08013483881950378,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0559,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.575,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256737.2",
"gene_symbol": "GDAP1L1",
"hgnc_id": 4213,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Arg104Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}