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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: 10-100809115-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100809115&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PAX2",
"hgnc_id": 8616,
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Asn289Lys",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003990.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5219,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.510683000087738,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 394,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1185,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000278.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355243.8",
"protein_coding": true,
"protein_id": "NP_000269.3",
"strand": true,
"transcript": "NM_000278.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 394,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1185,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000355243.8",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000278.5",
"protein_coding": true,
"protein_id": "ENSP00000347385.3",
"strand": true,
"transcript": "ENST00000355243.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1191,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000370296.6",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359319.3",
"strand": true,
"transcript": "ENST00000370296.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 303,
"aa_ref": "N",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 914,
"cds_start": 786,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000554172.2",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.786C>G",
"hgvs_p": "p.Asn262Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452489.2",
"strand": true,
"transcript": "ENST00000554172.2",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1299,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003990.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Asn289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003981.3",
"strand": true,
"transcript": "NM_003990.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1299,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000707079.1",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Asn289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516730.1",
"strand": true,
"transcript": "ENST00000707079.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 425,
"aa_ref": "N",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1278,
"cds_start": 891,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001304569.2",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291498.1",
"strand": true,
"transcript": "NM_001304569.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 425,
"aa_ref": "N",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1278,
"cds_start": 891,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000707078.1",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516729.1",
"strand": true,
"transcript": "ENST00000707078.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 417,
"aa_ref": "N",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1254,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003987.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Asn289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003978.3",
"strand": true,
"transcript": "NM_003987.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 417,
"aa_ref": "N",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1254,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000428433.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Asn289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396259.1",
"strand": true,
"transcript": "ENST00000428433.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 409,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1230,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003989.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003980.3",
"strand": true,
"transcript": "NM_003989.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 409,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1230,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000427256.6",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398652.2",
"strand": true,
"transcript": "ENST00000427256.6",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "N",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4272,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1191,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003988.5",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Asn266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003979.2",
"strand": true,
"transcript": "NM_003988.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 393,
"aa_ref": "N",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1182,
"cds_start": 795,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000361791.7",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Asn265Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355069.4",
"strand": true,
"transcript": "ENST00000361791.7",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 388,
"aa_ref": "N",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1167,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679374.1",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Asn260Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506041.1",
"strand": true,
"transcript": "ENST00000679374.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 385,
"aa_ref": "N",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1158,
"cds_start": 771,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884894.1",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.771C>G",
"hgvs_p": "p.Asn257Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554953.1",
"strand": true,
"transcript": "ENST00000884894.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": null,
"cds_end": null,
"cds_length": 879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884893.1",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "c.614-15533C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554952.1",
"strand": true,
"transcript": "ENST00000884893.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000554363.2",
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"hgvs_c": "n.513C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554363.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8616,
"gene_symbol": "PAX2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.215,
"pos": 100809115,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.317,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_003990.5"
}
]
}