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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: 1-92266451-CTTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92266451&ref=CTTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92266451,
"ref": "CTTG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_053274.3",
"consequences": [
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1179_1181delCAA",
"hgvs_p": "p.Asn393del",
"transcript": "NM_053274.3",
"protein_id": "NP_444504.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 594,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "ENST00000370360.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1179_1181delCAA",
"hgvs_p": "p.Asn393del",
"transcript": "ENST00000370360.8",
"protein_id": "ENSP00000359385.3",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 594,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "NM_053274.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.1179_1181delCAA",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"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": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1137_1139delCAA",
"hgvs_p": "p.Asn379del",
"transcript": "NM_001319683.2",
"protein_id": "NP_001306612.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 580,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.402_404delCAA",
"hgvs_p": "p.Asn134del",
"transcript": "ENST00000495852.6",
"protein_id": "ENSP00000469157.2",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 296,
"cds_start": 402,
"cds_end": null,
"cds_length": 891,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1278_1280delCAA",
"hgvs_p": "p.Asn426del",
"transcript": "XM_017000137.2",
"protein_id": "XP_016855626.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 627,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1236_1238delCAA",
"hgvs_p": "p.Asn412del",
"transcript": "XM_017000138.2",
"protein_id": "XP_016855627.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 613,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1179_1181delCAA",
"hgvs_p": "p.Asn393del",
"transcript": "XM_011540546.3",
"protein_id": "XP_011538848.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 594,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1152_1154delCAA",
"hgvs_p": "p.Asn384del",
"transcript": "XM_017000140.2",
"protein_id": "XP_016855629.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 585,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1053_1055delCAA",
"hgvs_p": "p.Asn351del",
"transcript": "XM_005270401.4",
"protein_id": "XP_005270458.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 552,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1011_1013delCAA",
"hgvs_p": "p.Asn337del",
"transcript": "XM_047442822.1",
"protein_id": "XP_047298778.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 538,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.678_680delCAA",
"hgvs_p": "p.Asn226del",
"transcript": "XM_006710309.3",
"protein_id": "XP_006710372.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 427,
"cds_start": 678,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.408_410delCAA",
"hgvs_p": "p.Asn136del",
"transcript": "XM_047442833.1",
"protein_id": "XP_047298789.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 337,
"cds_start": 408,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.1272_1274delCAA",
"hgvs_p": null,
"transcript": "NR_135089.2",
"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": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.561+86_561+88delCAA",
"hgvs_p": null,
"transcript": "ENST00000463560.1",
"protein_id": "ENSP00000468973.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1293+86_1293+88delCAA",
"hgvs_p": null,
"transcript": "XM_017000139.2",
"protein_id": "XP_016855628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1194+86_1194+88delCAA",
"hgvs_p": null,
"transcript": "XM_017000141.2",
"protein_id": "XP_016855630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.1726+86_1726+88delCAA",
"hgvs_p": null,
"transcript": "XR_007068627.1",
"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": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"dbsnp": "rs773442562",
"frequency_reference_population": 0.000030519324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000323799,
"gnomad_genomes_af": 0.000013146,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 2,
"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": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.346,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.19,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM4_Supporting,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM4_Supporting",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_053274.3",
"gene_symbol": "GLMN",
"hgnc_id": 14373,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1179_1181delCAA",
"hgvs_p": "p.Asn393del"
}
],
"clinvar_disease": "GLMN-related disorder,Glomuvenous malformation,not provided,not specified",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:3",
"phenotype_combined": "Glomuvenous malformation|not specified|not provided|GLMN-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}