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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: 10-86716377-CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86716377&ref=CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86716377,
"ref": "CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000361373.9",
"consequences": [
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1296_1343delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro433_Ser448del",
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 727,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1296_1343delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro433_Ser448del",
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 727,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1311_1358delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro438_Ser453del",
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 732,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1311_1358delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro438_Ser453del",
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 732,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1155_1202delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro386_Ser401del",
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 680,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1155_1202delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro386_Ser401del",
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 680,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1155_1202delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro386_Ser401del",
"transcript": "ENST00000693680.1",
"protein_id": "ENSP00000509539.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 680,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1107_1154delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro370_Ser385del",
"transcript": "NM_001368064.1",
"protein_id": "NP_001354993.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 664,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1107_1154delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro370_Ser385del",
"transcript": "NM_001368065.1",
"protein_id": "NP_001354994.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 664,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1107_1154delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro370_Ser385del",
"transcript": "ENST00000688001.1",
"protein_id": "ENSP00000508987.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 664,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1107_1154delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro370_Ser385del",
"transcript": "ENST00000689296.1",
"protein_id": "ENSP00000510609.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 664,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.966_1013delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro323_Ser338del",
"transcript": "NM_001080114.2",
"protein_id": "NP_001073583.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 617,
"cds_start": 966,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SPAPAYTPSPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.966_1013delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro323_Ser338del",
"transcript": "ENST00000429277.7",
"protein_id": "ENSP00000401437.3",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 617,
"cds_start": 966,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "n.515-2336_515-2289delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": null,
"transcript": "ENST00000687154.1",
"protein_id": null,
"transcript_support_level": null,
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"dbsnp": "rs397517209",
"frequency_reference_population": 0.000027985423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.000030176,
"gnomad_genomes_af": 0.00000667263,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.397,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Very_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000361373.9",
"gene_symbol": "LDB3",
"hgnc_id": 15710,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1296_1343delCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro433_Ser448del"
}
],
"clinvar_disease": "Cardiomyopathy,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Cardiomyopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}