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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: 1-102912179-GTGGGCCAGCCTCACCAGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=102912179&ref=GTGGGCCAGCCTCACCAGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 102912179,
"ref": "GTGGGCCAGCCTCACCAGA",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000370096.9",
"consequences": [
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4048_4065delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1350_Pro1355del",
"transcript": "NM_001854.4",
"protein_id": "NP_001845.3",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4048,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4409,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "ENST00000370096.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4048_4065delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1350_Pro1355del",
"transcript": "ENST00000370096.9",
"protein_id": "ENSP00000359114.3",
"transcript_support_level": 1,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4048,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4409,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "NM_001854.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3700_3717delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1234_Pro1239del",
"transcript": "ENST00000512756.5",
"protein_id": "ENSP00000426533.1",
"transcript_support_level": 1,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3700,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 5442,
"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": 51,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*1298_*1315delTCTGGTGAGGCTGGCCCA",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*1298_*1315delTCTGGTGAGGCTGGCCCA",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4084_4101delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1362_Pro1367del",
"transcript": "NM_080629.3",
"protein_id": "NP_542196.2",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4084,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4084_4101delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1362_Pro1367del",
"transcript": "ENST00000358392.6",
"protein_id": "ENSP00000351163.2",
"transcript_support_level": 5,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4084,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4419,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3931_3948delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1311_Pro1316del",
"transcript": "NM_001190709.2",
"protein_id": "NP_001177638.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1767,
"cds_start": 3931,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 4292,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3931_3948delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1311_Pro1316del",
"transcript": "ENST00000353414.8",
"protein_id": "ENSP00000302551.6",
"transcript_support_level": 5,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1767,
"cds_start": 3931,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 4266,
"cdna_end": null,
"cdna_length": 7173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3700_3717delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1234_Pro1239del",
"transcript": "NM_080630.4",
"protein_id": "NP_542197.3",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3700,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4061,
"cdna_end": null,
"cdna_length": 6963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4201_4218delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1401_Pro1406del",
"transcript": "XM_017000334.2",
"protein_id": "XP_016855823.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1857,
"cds_start": 4201,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 4562,
"cdna_end": null,
"cdna_length": 7464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4195_4212delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1399_Pro1404del",
"transcript": "XM_017000335.2",
"protein_id": "XP_016855824.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4195,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 4556,
"cdna_end": null,
"cdna_length": 7458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4201_4218delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1401_Pro1406del",
"transcript": "XM_017000336.2",
"protein_id": "XP_016855825.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4562,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SGEAGP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2599_2616delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser867_Pro872del",
"transcript": "XM_017000337.2",
"protein_id": "XP_016855826.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 5629,
"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": 55,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.4408_4425delTCTGGTGAGGCTGGCCCA",
"hgvs_p": null,
"transcript": "NR_134980.2",
"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": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"dbsnp": "rs1553200431",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 9.291,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM4",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370096.9",
"gene_symbol": "COL11A1",
"hgnc_id": 2186,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4048_4065delTCTGGTGAGGCTGGCCCA",
"hgvs_p": "p.Ser1350_Pro1355del"
}
],
"clinvar_disease": "8 conditions",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "8 conditions",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}