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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: 1-150694802-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150694802&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150694802,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018178.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "NM_018178.6",
"protein_id": "NP_060648.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": "ENST00000271732.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018178.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000271732.8",
"protein_id": "ENSP00000271732.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": "NM_018178.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271732.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000854642.1",
"protein_id": "ENSP00000524701.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854642.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000854644.1",
"protein_id": "ENSP00000524703.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854644.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000943663.1",
"protein_id": "ENSP00000613722.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943663.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000943664.1",
"protein_id": "ENSP00000613723.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 285,
"cds_start": 37,
"cds_end": null,
"cds_length": 858,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943664.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000427665.1",
"protein_id": "ENSP00000410476.1",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 268,
"cds_start": 37,
"cds_end": null,
"cds_length": 808,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427665.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000854643.1",
"protein_id": "ENSP00000524702.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 263,
"cds_start": 37,
"cds_end": null,
"cds_length": 792,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854643.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val",
"transcript": "ENST00000854641.1",
"protein_id": "ENSP00000524700.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 241,
"cds_start": 37,
"cds_end": null,
"cds_length": 726,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854641.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Ile27Val",
"transcript": "XM_006711428.3",
"protein_id": "XP_006711491.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 299,
"cds_start": 79,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711428.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Ile27Val",
"transcript": "XM_047424285.1",
"protein_id": "XP_047280241.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 255,
"cds_start": 79,
"cds_end": null,
"cds_length": 768,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424285.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Ile27Val",
"transcript": "XM_047424286.1",
"protein_id": "XP_047280242.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 172,
"cds_start": 79,
"cds_end": null,
"cds_length": 519,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GOLPH3L",
"gene_hgnc_id": 24882,
"hgvs_c": "n.166A>G",
"hgvs_p": null,
"transcript": "ENST00000479757.1",
"protein_id": null,
"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": 456,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479757.1"
}
],
"gene_symbol": "GOLPH3L",
"gene_hgnc_id": 24882,
"dbsnp": "rs371196690",
"frequency_reference_population": 0.00005454631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000520149,
"gnomad_genomes_af": 0.0000788498,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01913166046142578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.694,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018178.6",
"gene_symbol": "GOLPH3L",
"hgnc_id": 24882,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Ile13Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}