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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: 1-32684061-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32684061&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32684061,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030786.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Gln463Glu",
"transcript": "NM_030786.3",
"protein_id": "NP_110413.3",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 482,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409190.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030786.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Gln463Glu",
"transcript": "ENST00000409190.8",
"protein_id": "ENSP00000386439.3",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 482,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030786.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409190.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.*4356G>C",
"hgvs_p": null,
"transcript": "NM_005610.3",
"protein_id": "NP_005601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373493.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005610.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.*4356G>C",
"hgvs_p": null,
"transcript": "ENST00000373493.10",
"protein_id": "ENSP00000362592.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005610.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373493.10"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Gln488Glu",
"transcript": "ENST00000947461.1",
"protein_id": "ENSP00000617520.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 507,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947461.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1381C>G",
"hgvs_p": "p.Gln461Glu",
"transcript": "ENST00000854990.1",
"protein_id": "ENSP00000525049.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 480,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854990.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1372C>G",
"hgvs_p": "p.Gln458Glu",
"transcript": "ENST00000854989.1",
"protein_id": "ENSP00000525048.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 477,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854989.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1348C>G",
"hgvs_p": "p.Gln450Glu",
"transcript": "ENST00000947460.1",
"protein_id": "ENSP00000617519.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 469,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947460.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Gln463Glu",
"transcript": "XM_024450010.2",
"protein_id": "XP_024305778.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 553,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450010.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Gln375Glu",
"transcript": "XM_024450011.2",
"protein_id": "XP_024305779.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 465,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450011.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Gln375Glu",
"transcript": "XM_024450013.2",
"protein_id": "XP_024305781.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 465,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450013.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Gln375Glu",
"transcript": "XM_047431210.1",
"protein_id": "XP_047287166.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 394,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431210.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Gln375Glu",
"transcript": "XM_047431221.1",
"protein_id": "XP_047287177.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 394,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431221.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Gln375Glu",
"transcript": "XM_047431230.1",
"protein_id": "XP_047287186.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 394,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.*4356G>C",
"hgvs_p": null,
"transcript": "NM_001135255.2",
"protein_id": "NP_001128727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135255.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.*4356G>C",
"hgvs_p": null,
"transcript": "NM_001135256.2",
"protein_id": "NP_001128728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135256.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1358+197C>G",
"hgvs_p": null,
"transcript": "NM_001161708.2",
"protein_id": "NP_001155180.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161708.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.1358+197C>G",
"hgvs_p": null,
"transcript": "ENST00000373484.4",
"protein_id": "ENSP00000362583.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373484.4"
}
],
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"dbsnp": "rs543160863",
"frequency_reference_population": 0.000011771207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000102608,
"gnomad_genomes_af": 0.0000262764,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11343783140182495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.302,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0655,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.65,
"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_030786.3",
"gene_symbol": "SYNC",
"hgnc_id": 28897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Gln463Glu"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005610.3",
"gene_symbol": "RBBP4",
"hgnc_id": 9887,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*4356G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}