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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: 2-48963020-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=48963020&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 48963020,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000406846.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Leu601Val",
"transcript": "NM_000145.4",
"protein_id": "NP_000136.2",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 695,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": "ENST00000406846.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Leu601Val",
"transcript": "ENST00000406846.7",
"protein_id": "ENSP00000384708.2",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 695,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": "NM_000145.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Leu575Val",
"transcript": "ENST00000304421.8",
"protein_id": "ENSP00000306780.4",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 669,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Leu575Val",
"transcript": "NM_181446.3",
"protein_id": "NP_852111.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 669,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1903C>G",
"hgvs_p": "p.Leu635Val",
"transcript": "XM_011532733.3",
"protein_id": "XP_011531035.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 729,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1570C>G",
"hgvs_p": "p.Leu524Val",
"transcript": "XM_047443867.1",
"protein_id": "XP_047299823.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 618,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Leu337Val",
"transcript": "XM_011532735.3",
"protein_id": "XP_011531037.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 431,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282890",
"gene_hgnc_id": 58158,
"hgvs_c": "n.492+16615G>C",
"hgvs_p": null,
"transcript": "ENST00000634588.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FSHR",
"gene_hgnc_id": 3969,
"dbsnp": "rs386833513",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9456523656845093,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000406846.7",
"gene_symbol": "FSHR",
"hgnc_id": 3969,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Leu601Val"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000634588.1",
"gene_symbol": "ENSG00000282890",
"hgnc_id": 58158,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.492+16615G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Ovarian dysgenesis 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ovarian dysgenesis 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}