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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: 5-134750850-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134750850&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134750850,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001745.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Tyr264Cys",
"transcript": "NM_001745.4",
"protein_id": "NP_001736.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 296,
"cds_start": 791,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297156.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001745.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Tyr264Cys",
"transcript": "ENST00000297156.4",
"protein_id": "ENSP00000297156.2",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 296,
"cds_start": 791,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001745.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297156.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000514518.1",
"protein_id": "ENSP00000427331.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514518.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Tyr281Cys",
"transcript": "ENST00000918602.1",
"protein_id": "ENSP00000588661.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 313,
"cds_start": 842,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918602.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Tyr264Cys",
"transcript": "ENST00000918598.1",
"protein_id": "ENSP00000588657.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 296,
"cds_start": 791,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918598.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Tyr263Cys",
"transcript": "ENST00000678771.1",
"protein_id": "ENSP00000504018.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 295,
"cds_start": 788,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678771.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Tyr262Cys",
"transcript": "ENST00000918599.1",
"protein_id": "ENSP00000588658.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 294,
"cds_start": 785,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918599.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Tyr261Cys",
"transcript": "ENST00000918600.1",
"protein_id": "ENSP00000588659.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 293,
"cds_start": 782,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918600.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Tyr242Cys",
"transcript": "ENST00000890609.1",
"protein_id": "ENSP00000560668.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 274,
"cds_start": 725,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890609.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Tyr241Cys",
"transcript": "ENST00000918601.1",
"protein_id": "ENSP00000588660.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 273,
"cds_start": 722,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918601.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Tyr240Cys",
"transcript": "ENST00000918603.1",
"protein_id": "ENSP00000588662.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 272,
"cds_start": 719,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918603.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Tyr242Cys",
"transcript": "XM_047417791.1",
"protein_id": "XP_047273747.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 274,
"cds_start": 725,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000677273.1",
"protein_id": "ENSP00000503312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "c.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000676829.1",
"protein_id": "ENSP00000503328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "n.3185A>G",
"hgvs_p": null,
"transcript": "ENST00000676819.1",
"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": "retained_intron",
"feature": "ENST00000676819.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "n.205A>G",
"hgvs_p": null,
"transcript": "ENST00000676928.1",
"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": "ENST00000676928.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"hgvs_c": "n.4401A>G",
"hgvs_p": null,
"transcript": "ENST00000677966.1",
"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": "retained_intron",
"feature": "ENST00000677966.1"
}
],
"gene_symbol": "CAMLG",
"gene_hgnc_id": 1471,
"dbsnp": "rs977164554",
"frequency_reference_population": 0.0000030982812,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205251,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7990684509277344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9392,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.939,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001745.4",
"gene_symbol": "CAMLG",
"hgnc_id": 1471,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Tyr264Cys"
}
],
"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
}