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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: 1-36088072-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36088072&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TEKT2",
"hgnc_id": 11725,
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_014466.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 1487786,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014466.3",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000207457.8",
"protein_coding": true,
"protein_id": "NP_055281.2",
"strand": true,
"transcript": "NM_014466.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000207457.8",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014466.3",
"protein_coding": true,
"protein_id": "ENSP00000207457.3",
"strand": true,
"transcript": "ENST00000207457.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "T",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1227,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902746.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1227A>G",
"hgvs_p": "p.Thr409Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572805.1",
"strand": true,
"transcript": "ENST00000902746.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "T",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922202.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1218A>G",
"hgvs_p": "p.Thr406Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592261.1",
"strand": true,
"transcript": "ENST00000922202.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 442,
"aa_ref": "T",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1215,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902743.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1215A>G",
"hgvs_p": "p.Thr405Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572802.1",
"strand": true,
"transcript": "ENST00000902743.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902744.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572803.1",
"strand": true,
"transcript": "ENST00000902744.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902745.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572804.1",
"strand": true,
"transcript": "ENST00000902745.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902747.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572806.1",
"strand": true,
"transcript": "ENST00000902747.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922203.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592262.1",
"strand": true,
"transcript": "ENST00000922203.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000922204.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592263.1",
"strand": true,
"transcript": "ENST00000922204.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005270753.3",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270810.1",
"strand": true,
"transcript": "XM_005270753.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011541258.4",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539560.1",
"strand": true,
"transcript": "XM_011541258.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "T",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017001055.2",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Thr393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856544.1",
"strand": true,
"transcript": "XM_017001055.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473120.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "c.*261A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432793.1",
"strand": true,
"transcript": "ENST00000473120.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000469024.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "n.*983A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434183.1",
"strand": true,
"transcript": "ENST00000469024.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000469024.1",
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"hgvs_c": "n.*983A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434183.1",
"strand": true,
"transcript": "ENST00000469024.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs399393",
"effect": "synonymous_variant",
"frequency_reference_population": 0.92239255,
"gene_hgnc_id": 11725,
"gene_symbol": "TEKT2",
"gnomad_exomes_ac": 1347205,
"gnomad_exomes_af": 0.922305,
"gnomad_exomes_homalt": 621535,
"gnomad_genomes_ac": 140581,
"gnomad_genomes_af": 0.923235,
"gnomad_genomes_homalt": 64981,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 686516,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.779,
"pos": 36088072,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014466.3"
}
]
}