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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: 11-64015262-TCC-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64015262&ref=TCC&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MACROD1",
"hgnc_id": 29598,
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001411019.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 656,
"cds_end": null,
"cds_length": 978,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014067.4",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255681.7",
"protein_coding": true,
"protein_id": "NP_054786.2",
"strand": false,
"transcript": "NM_014067.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 656,
"cds_end": null,
"cds_length": 978,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255681.7",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014067.4",
"protein_coding": true,
"protein_id": "ENSP00000255681.6",
"strand": false,
"transcript": "ENST00000255681.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1035,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909130.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579189.1",
"strand": false,
"transcript": "ENST00000909130.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1005,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411019.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397948.1",
"strand": false,
"transcript": "NM_001411019.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1005,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675777.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502549.1",
"strand": false,
"transcript": "ENST00000675777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 328,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 656,
"cds_end": null,
"cds_length": 987,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909127.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579186.1",
"strand": false,
"transcript": "ENST00000909127.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 327,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": 577,
"cds_end": null,
"cds_length": 984,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909128.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.541_543delGGAinsCGG",
"hgvs_p": "p.Gly181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579187.1",
"strand": false,
"transcript": "ENST00000909128.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 696,
"cds_end": null,
"cds_length": 978,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909125.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579184.1",
"strand": false,
"transcript": "ENST00000909125.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 324,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 665,
"cds_end": null,
"cds_length": 975,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909126.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579185.1",
"strand": false,
"transcript": "ENST00000909126.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 323,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 677,
"cds_end": null,
"cds_length": 972,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941620.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611679.1",
"strand": false,
"transcript": "ENST00000941620.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 320,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 678,
"cds_end": null,
"cds_length": 963,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941621.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.535_537delGGAinsCGG",
"hgvs_p": "p.Gly179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611680.1",
"strand": false,
"transcript": "ENST00000941621.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 469,
"cds_end": null,
"cds_length": 876,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909129.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.433_435delGGAinsCGG",
"hgvs_p": "p.Gly145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579188.1",
"strand": false,
"transcript": "ENST00000909129.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "G",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 431,
"cds_end": null,
"cds_length": 861,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909131.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.418_420delGGAinsCGG",
"hgvs_p": "p.Gly140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579190.1",
"strand": false,
"transcript": "ENST00000909131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": null,
"cds_end": null,
"cds_length": 948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909124.1",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.518-14921_518-14919delGGAinsCGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579183.1",
"strand": false,
"transcript": "ENST00000909124.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011544970.3",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "c.518-14921_518-14919delGGAinsCGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543272.1",
"strand": false,
"transcript": "XM_011544970.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000542359.5",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "n.316_318delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000542359.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000543422.5",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "n.99_101delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000543422.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545464.5",
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"hgvs_c": "n.630-14921_630-14919delGGAinsCGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000545464.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29598,
"gene_symbol": "MACROD1",
"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": "Uncertain_significance",
"phylop100way_score": 3.823,
"pos": 64015262,
"ref": "TCC",
"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_001411019.1"
}
]
}