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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: 3-129431566-CT-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129431566&ref=CT&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129431566,
"ref": "CT",
"alt": "TA",
"effect": "missense_variant",
"transcript": "NM_003925.3",
"consequences": [
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1659_1660delAGinsTA",
"hgvs_p": "p.GluAsp553AspAsn",
"transcript": "NM_001276270.2",
"protein_id": "NP_001263199.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 574,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429544.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276270.2"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1659_1660delAGinsTA",
"hgvs_p": "p.GluAsp553AspAsn",
"transcript": "ENST00000429544.7",
"protein_id": "ENSP00000394080.2",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 574,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276270.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429544.7"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1677_1678delAGinsTA",
"hgvs_p": "p.GluAsp559AspAsn",
"transcript": "ENST00000249910.5",
"protein_id": "ENSP00000249910.1",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 580,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249910.5"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.723_724delAGinsTA",
"hgvs_p": "p.GluAsp241AspAsn",
"transcript": "ENST00000393278.6",
"protein_id": "ENSP00000376959.2",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 262,
"cds_start": 723,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393278.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.*1_*2delAGinsTA",
"hgvs_p": null,
"transcript": "ENST00000503197.5",
"protein_id": "ENSP00000424873.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503197.5"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1677_1678delAGinsTA",
"hgvs_p": "p.GluAsp559AspAsn",
"transcript": "NM_003925.3",
"protein_id": "NP_003916.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 580,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003925.3"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1674_1675delAGinsTA",
"hgvs_p": "p.GluAsp558AspAsn",
"transcript": "ENST00000853350.1",
"protein_id": "ENSP00000523409.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 579,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853350.1"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1659_1660delAGinsTA",
"hgvs_p": "p.GluAsp553AspAsn",
"transcript": "ENST00000915033.1",
"protein_id": "ENSP00000585092.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 574,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915033.1"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1656_1657delAGinsTA",
"hgvs_p": "p.GluAsp552AspAsn",
"transcript": "ENST00000853349.1",
"protein_id": "ENSP00000523408.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 573,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853349.1"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1566_1567delAGinsTA",
"hgvs_p": "p.GluAsp522AspAsn",
"transcript": "ENST00000915034.1",
"protein_id": "ENSP00000585093.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 543,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915034.1"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.1548_1549delAGinsTA",
"hgvs_p": "p.GluAsp516AspAsn",
"transcript": "ENST00000853351.1",
"protein_id": "ENSP00000523410.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 537,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853351.1"
},
{
"aa_ref": "ED",
"aa_alt": "DN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.723_724delAGinsTA",
"hgvs_p": "p.GluAsp241AspAsn",
"transcript": "NM_001276273.2",
"protein_id": "NP_001263202.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 262,
"cds_start": 723,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276273.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.*1_*2delAGinsTA",
"hgvs_p": null,
"transcript": "NM_001276272.2",
"protein_id": "NP_001263201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276272.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.*1_*2delAGinsTA",
"hgvs_p": null,
"transcript": "XM_047449153.1",
"protein_id": "XP_047305109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "n.*211_*212delAGinsTA",
"hgvs_p": null,
"transcript": "ENST00000509828.1",
"protein_id": "ENSP00000422690.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "n.*211_*212delAGinsTA",
"hgvs_p": null,
"transcript": "ENST00000509828.1",
"protein_id": "ENSP00000422690.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509828.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "n.146-1524_146-1523delCTinsTA",
"hgvs_p": null,
"transcript": "ENST00000687461.1",
"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": "ENST00000687461.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "n.213-1524_213-1523delCTinsTA",
"hgvs_p": null,
"transcript": "ENST00000693654.1",
"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": "ENST00000693654.1"
}
],
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"dbsnp": null,
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.557,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_003925.3",
"gene_symbol": "MBD4",
"hgnc_id": 6919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1677_1678delAGinsTA",
"hgvs_p": "p.GluAsp559AspAsn"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000687461.1",
"gene_symbol": "IFT122",
"hgnc_id": 13556,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.146-1524_146-1523delCTinsTA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}