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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: 11-34470999-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34470999&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 34470999,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001752.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1476C>T",
"hgvs_p": "p.His492His",
"transcript": "NM_001752.4",
"protein_id": "NP_001743.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 527,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000241052.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001752.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1476C>T",
"hgvs_p": "p.His492His",
"transcript": "ENST00000241052.5",
"protein_id": "ENSP00000241052.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 527,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001752.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "n.286C>T",
"hgvs_p": null,
"transcript": "ENST00000534710.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534710.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1587C>T",
"hgvs_p": "p.His529His",
"transcript": "ENST00000955133.1",
"protein_id": "ENSP00000625192.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 564,
"cds_start": 1587,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955133.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1497C>T",
"hgvs_p": "p.His499His",
"transcript": "ENST00000955131.1",
"protein_id": "ENSP00000625190.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 534,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955131.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.His493His",
"transcript": "ENST00000856105.1",
"protein_id": "ENSP00000526164.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 528,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856105.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1467C>T",
"hgvs_p": "p.His489His",
"transcript": "ENST00000856102.1",
"protein_id": "ENSP00000526161.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 524,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856102.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.His487His",
"transcript": "ENST00000955132.1",
"protein_id": "ENSP00000625191.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 522,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955132.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1449C>T",
"hgvs_p": "p.His483His",
"transcript": "ENST00000856109.1",
"protein_id": "ENSP00000526168.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 518,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856109.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.His450His",
"transcript": "ENST00000856107.1",
"protein_id": "ENSP00000526166.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 485,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856107.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.His441His",
"transcript": "ENST00000929641.1",
"protein_id": "ENSP00000599700.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 476,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929641.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1206C>T",
"hgvs_p": "p.His402His",
"transcript": "ENST00000856104.1",
"protein_id": "ENSP00000526163.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 437,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856104.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.His366His",
"transcript": "ENST00000856110.1",
"protein_id": "ENSP00000526169.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 401,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856110.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.486C>T",
"hgvs_p": "p.His162His",
"transcript": "ENST00000856106.1",
"protein_id": "ENSP00000526165.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 197,
"cds_start": 486,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856106.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.His72His",
"transcript": "ENST00000856108.1",
"protein_id": "ENSP00000526167.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 107,
"cds_start": 216,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856108.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "ENST00000856103.1",
"protein_id": "ENSP00000526162.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 71,
"cds_start": 108,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"hgvs_c": "c.1057-369C>T",
"hgvs_p": null,
"transcript": "ENST00000856101.1",
"protein_id": "ENSP00000526160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856101.1"
}
],
"gene_symbol": "CAT",
"gene_hgnc_id": 1516,
"dbsnp": "rs17880442",
"frequency_reference_population": 0.00052409666,
"hom_count_reference_population": 3,
"allele_count_reference_population": 846,
"gnomad_exomes_af": 0.000305774,
"gnomad_genomes_af": 0.00261907,
"gnomad_exomes_ac": 447,
"gnomad_genomes_ac": 399,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.037,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001752.4",
"gene_symbol": "CAT",
"hgnc_id": 1516,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1476C>T",
"hgvs_p": "p.His492His"
}
],
"clinvar_disease": "CAT-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|CAT-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}