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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: 9-86033359-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=86033359&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 86033359,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016548.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "NM_016548.4",
"protein_id": "NP_057632.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016548.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000388712.7",
"protein_id": "ENSP00000373364.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016548.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388712.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000388711.7",
"protein_id": "ENSP00000373363.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388711.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.Tyr365Cys",
"transcript": "ENST00000944326.1",
"protein_id": "ENSP00000614385.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 415,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944326.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Tyr364Cys",
"transcript": "ENST00000910229.1",
"protein_id": "ENSP00000580288.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 414,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910229.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Tyr364Cys",
"transcript": "ENST00000910233.1",
"protein_id": "ENSP00000580292.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 414,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910233.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "NM_177937.3",
"protein_id": "NP_808800.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177937.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000910231.1",
"protein_id": "ENSP00000580290.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910231.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000910232.1",
"protein_id": "ENSP00000580291.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910232.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000910235.1",
"protein_id": "ENSP00000580294.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910235.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000910236.1",
"protein_id": "ENSP00000580295.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910236.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000910237.1",
"protein_id": "ENSP00000580296.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 401,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910237.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1049A>G",
"hgvs_p": "p.Tyr350Cys",
"transcript": "ENST00000910228.1",
"protein_id": "ENSP00000580287.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 400,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910228.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1049A>G",
"hgvs_p": "p.Tyr350Cys",
"transcript": "ENST00000936265.1",
"protein_id": "ENSP00000606324.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 400,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936265.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Tyr342Cys",
"transcript": "ENST00000936266.1",
"protein_id": "ENSP00000606325.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 392,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936266.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Tyr291Cys",
"transcript": "ENST00000944327.1",
"protein_id": "ENSP00000614386.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 341,
"cds_start": 872,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944327.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000910230.1",
"protein_id": "ENSP00000580289.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 315,
"cds_start": 794,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910230.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000910234.1",
"protein_id": "ENSP00000580293.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 315,
"cds_start": 794,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910234.1"
}
],
"gene_symbol": "GOLM1",
"gene_hgnc_id": 15451,
"dbsnp": "rs150057141",
"frequency_reference_population": 0.00005332434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.000054774,
"gnomad_genomes_af": 0.0000394156,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.821691632270813,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.389,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.837,
"phylop100way_prediction": "Uncertain_significance",
"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_016548.4",
"gene_symbol": "GOLM1",
"hgnc_id": 15451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys"
}
],
"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
}