← 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: 10-100809226-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100809226&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100809226,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000355243.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "NM_000278.5",
"protein_id": "NP_000269.3",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 394,
"cds_start": 909,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": "ENST00000355243.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "ENST00000355243.8",
"protein_id": "ENSP00000347385.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 394,
"cds_start": 909,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": "NM_000278.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "ENST00000370296.6",
"protein_id": "ENSP00000359319.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 396,
"cds_start": 909,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.897A>C",
"hgvs_p": "p.Pro299Pro",
"transcript": "ENST00000554172.2",
"protein_id": "ENSP00000452489.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 303,
"cds_start": 897,
"cds_end": null,
"cds_length": 914,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.978A>C",
"hgvs_p": "p.Pro326Pro",
"transcript": "NM_003990.5",
"protein_id": "NP_003981.3",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 432,
"cds_start": 978,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.978A>C",
"hgvs_p": "p.Pro326Pro",
"transcript": "ENST00000707079.1",
"protein_id": "ENSP00000516730.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 432,
"cds_start": 978,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.1002A>C",
"hgvs_p": "p.Pro334Pro",
"transcript": "NM_001304569.2",
"protein_id": "NP_001291498.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 425,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.1002A>C",
"hgvs_p": "p.Pro334Pro",
"transcript": "ENST00000707078.1",
"protein_id": "ENSP00000516729.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 425,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.978A>C",
"hgvs_p": "p.Pro326Pro",
"transcript": "NM_003987.5",
"protein_id": "NP_003978.3",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 417,
"cds_start": 978,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.978A>C",
"hgvs_p": "p.Pro326Pro",
"transcript": "ENST00000428433.5",
"protein_id": "ENSP00000396259.1",
"transcript_support_level": 5,
"aa_start": 326,
"aa_end": null,
"aa_length": 417,
"cds_start": 978,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "NM_003989.5",
"protein_id": "NP_003980.3",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 409,
"cds_start": 909,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "ENST00000427256.6",
"protein_id": "ENSP00000398652.2",
"transcript_support_level": 3,
"aa_start": 303,
"aa_end": null,
"aa_length": 409,
"cds_start": 909,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.909A>C",
"hgvs_p": "p.Pro303Pro",
"transcript": "NM_003988.5",
"protein_id": "NP_003979.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 396,
"cds_start": 909,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.906A>C",
"hgvs_p": "p.Pro302Pro",
"transcript": "ENST00000361791.7",
"protein_id": "ENSP00000355069.4",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 393,
"cds_start": 906,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "c.891A>C",
"hgvs_p": "p.Pro297Pro",
"transcript": "ENST00000679374.1",
"protein_id": "ENSP00000506041.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 388,
"cds_start": 891,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1204,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX2",
"gene_hgnc_id": 8616,
"hgvs_c": "n.*42A>C",
"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": "rs1800898",
"frequency_reference_population": 0.29710114,
"hom_count_reference_population": 81623,
"allele_count_reference_population": 479157,
"gnomad_exomes_af": 0.286976,
"gnomad_genomes_af": 0.394333,
"gnomad_exomes_ac": 419175,
"gnomad_genomes_ac": 59982,
"gnomad_exomes_homalt": 66047,
"gnomad_genomes_homalt": 15576,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.735,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355243.8",
"gene_symbol": "PAX2",
"hgnc_id": 8616,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Pro303Pro"
}
],
"clinvar_disease": "Focal segmental glomerulosclerosis 7,Renal coloboma syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7 O:1",
"phenotype_combined": "not provided|not specified|Renal coloboma syndrome|Focal segmental glomerulosclerosis 7;Renal coloboma syndrome|Focal segmental glomerulosclerosis 7",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}