← Back to variant description
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: 10-100806553-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100806553&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100806553,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355243.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "NM_000278.5",
"protein_id": "NP_000269.3",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 394,
"cds_start": 740,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": "ENST00000355243.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000355243.8",
"protein_id": "ENSP00000347385.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 394,
"cds_start": 740,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": "NM_000278.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000370296.6",
"protein_id": "ENSP00000359319.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 396,
"cds_start": 740,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243His",
"transcript": "ENST00000554172.2",
"protein_id": "ENSP00000452489.2",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 303,
"cds_start": 728,
"cds_end": null,
"cds_length": 914,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "NM_003990.5",
"protein_id": "NP_003981.3",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 432,
"cds_start": 809,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000707079.1",
"protein_id": "ENSP00000516730.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 432,
"cds_start": 809,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "NM_001304569.2",
"protein_id": "NP_001291498.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 425,
"cds_start": 833,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000707078.1",
"protein_id": "ENSP00000516729.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 425,
"cds_start": 833,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "NM_003987.5",
"protein_id": "NP_003978.3",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 417,
"cds_start": 809,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000428433.5",
"protein_id": "ENSP00000396259.1",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 417,
"cds_start": 809,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "NM_003989.5",
"protein_id": "NP_003980.3",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 409,
"cds_start": 740,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000427256.6",
"protein_id": "ENSP00000398652.2",
"transcript_support_level": 3,
"aa_start": 247,
"aa_end": null,
"aa_length": 409,
"cds_start": 740,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "NM_003988.5",
"protein_id": "NP_003979.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 396,
"cds_start": 740,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246His",
"transcript": "ENST00000361791.7",
"protein_id": "ENSP00000355069.4",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 393,
"cds_start": 737,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241His",
"transcript": "ENST00000679374.1",
"protein_id": "ENSP00000506041.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 388,
"cds_start": 722,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "n.461G>A",
"hgvs_p": null,
"transcript": "ENST00000553492.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "n.455G>A",
"hgvs_p": null,
"transcript": "ENST00000554363.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"dbsnp": "rs747639879",
"frequency_reference_population": 0.000009293323,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000088929,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8480606079101562,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.942,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PP2",
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355243.8",
"gene_symbol": "PAX2",
"hgnc_id": 8616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His"
}
],
"clinvar_disease": "Focal segmental glomerulosclerosis 7,Renal coloboma syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Renal coloboma syndrome;Focal segmental glomerulosclerosis 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}