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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: 4-145639171-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145639171&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145639171,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_172250.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "NM_172250.3",
"protein_id": "NP_758454.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": "ENST00000649156.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000649156.2",
"protein_id": "ENSP00000497008.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": "NM_172250.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "n.32A>G",
"hgvs_p": null,
"transcript": "ENST00000511969.4",
"protein_id": "ENSP00000427422.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "NM_001375644.1",
"protein_id": "NP_001362573.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000541599.5",
"protein_id": "ENSP00000442284.3",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000648388.1",
"protein_id": "ENSP00000497046.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000649704.1",
"protein_id": "ENSP00000497680.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000679563.1",
"protein_id": "ENSP00000506503.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "ENST00000649173.1",
"protein_id": "ENSP00000497871.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 396,
"cds_start": 32,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg",
"transcript": "XM_011531684.4",
"protein_id": "XP_011529986.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 418,
"cds_start": 32,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "n.520A>G",
"hgvs_p": null,
"transcript": "ENST00000506919.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "n.32A>G",
"hgvs_p": null,
"transcript": "ENST00000647947.1",
"protein_id": "ENSP00000496781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"hgvs_c": "n.32A>G",
"hgvs_p": null,
"transcript": "ENST00000679930.1",
"protein_id": "ENSP00000506293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MMAA",
"gene_hgnc_id": 18871,
"dbsnp": "rs749076210",
"frequency_reference_population": 0.000006840563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684056,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028210163116455078,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.0588,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.581,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_172250.3",
"gene_symbol": "MMAA",
"hgnc_id": 18871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.32A>G",
"hgvs_p": "p.His11Arg"
}
],
"clinvar_disease": " cblA type,Methylmalonic aciduria",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Methylmalonic aciduria, cblA type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}