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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: 19-35309930-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35309930&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35309930,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002361.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "NM_002361.4",
"protein_id": "NP_002352.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392213.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002361.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000392213.8",
"protein_id": "ENSP00000376048.2",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002361.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392213.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1213T>G",
"hgvs_p": "p.Cys405Gly",
"transcript": "ENST00000537831.2",
"protein_id": "ENSP00000440695.1",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 601,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537831.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000361922.8",
"protein_id": "ENSP00000355234.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 582,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361922.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000872034.1",
"protein_id": "ENSP00000542093.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 637,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872034.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1306T>G",
"hgvs_p": "p.Cys436Gly",
"transcript": "ENST00000872032.1",
"protein_id": "ENSP00000542091.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 632,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872032.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000872031.1",
"protein_id": "ENSP00000542090.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872031.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000872033.1",
"protein_id": "ENSP00000542092.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872033.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000872036.1",
"protein_id": "ENSP00000542095.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872036.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000918346.1",
"protein_id": "ENSP00000588405.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918346.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "ENST00000946899.1",
"protein_id": "ENSP00000616958.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 626,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946899.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1213T>G",
"hgvs_p": "p.Cys405Gly",
"transcript": "NM_001199216.2",
"protein_id": "NP_001186145.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 601,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199216.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly",
"transcript": "NM_080600.3",
"protein_id": "NP_542167.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 582,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080600.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Cys343Gly",
"transcript": "ENST00000872035.1",
"protein_id": "ENSP00000542094.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 539,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "n.125T>G",
"hgvs_p": null,
"transcript": "ENST00000593348.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000593348.1"
}
],
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"dbsnp": "rs587777229",
"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": 0.8993072509765625,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.781,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.373,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002361.4",
"gene_symbol": "MAG",
"hgnc_id": 6783,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1288T>G",
"hgvs_p": "p.Cys430Gly"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 75",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hereditary spastic paraplegia 75",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}