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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: X-85308188-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85308188&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85308188,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001307940.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "NM_024921.4",
"protein_id": "NP_079197.3",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 589,
"cds_start": 986,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262753.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024921.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "ENST00000262753.9",
"protein_id": "ENSP00000262753.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 589,
"cds_start": 986,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024921.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262753.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "ENST00000373145.3",
"protein_id": "ENSP00000362238.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 595,
"cds_start": 986,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373145.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "ENST00000871676.1",
"protein_id": "ENSP00000541735.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 601,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871676.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "NM_001307940.2",
"protein_id": "NP_001294869.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 595,
"cds_start": 986,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307940.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "ENST00000871681.1",
"protein_id": "ENSP00000541740.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 589,
"cds_start": 986,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871681.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "ENST00000871674.1",
"protein_id": "ENSP00000541733.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 574,
"cds_start": 941,
"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": "ENST00000871674.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "ENST00000871682.1",
"protein_id": "ENSP00000541741.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 570,
"cds_start": 929,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871682.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "ENST00000871672.1",
"protein_id": "ENSP00000541731.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 564,
"cds_start": 911,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871672.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000871680.1",
"protein_id": "ENSP00000541739.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 555,
"cds_start": 884,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871680.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "ENST00000871673.1",
"protein_id": "ENSP00000541732.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 551,
"cds_start": 986,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871673.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "ENST00000871683.1",
"protein_id": "ENSP00000541742.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 540,
"cds_start": 839,
"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": "ENST00000871683.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "ENST00000871679.1",
"protein_id": "ENSP00000541738.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 536,
"cds_start": 941,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871679.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Arg268Gln",
"transcript": "ENST00000871675.1",
"protein_id": "ENSP00000541734.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 528,
"cds_start": 803,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871675.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251Gln",
"transcript": "ENST00000871677.1",
"protein_id": "ENSP00000541736.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 511,
"cds_start": 752,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871677.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000871678.1",
"protein_id": "ENSP00000541737.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 494,
"cds_start": 701,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871678.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "XM_005262203.5",
"protein_id": "XP_005262260.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 574,
"cds_start": 941,
"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": "XM_005262203.5"
}
],
"gene_symbol": "POF1B",
"gene_hgnc_id": 13711,
"dbsnp": "rs75398746",
"frequency_reference_population": 0.0022992622,
"hom_count_reference_population": 848,
"allele_count_reference_population": 2710,
"gnomad_exomes_af": 0.00217393,
"gnomad_genomes_af": 0.00349936,
"gnomad_exomes_ac": 2320,
"gnomad_genomes_ac": 390,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017275214195251465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.215,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001307940.2",
"gene_symbol": "POF1B",
"hgnc_id": 13711,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln"
}
],
"clinvar_disease": "Premature ovarian failure 2B,Premature ovarian insufficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:6 B:1",
"phenotype_combined": "Premature ovarian failure 2B|not provided|Premature ovarian insufficiency",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}