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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: 17-63477132-T-TGCTGCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63477132&ref=T&alt=TGCTGCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63477132,
"ref": "T",
"alt": "TGCTGCC",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_000789.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "NM_000789.4",
"protein_id": "NP_000780.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1306,
"cds_start": 56,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290866.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000789.4"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000290866.10",
"protein_id": "ENSP00000290866.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 1306,
"cds_start": 56,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000789.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290866.10"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000953328.1",
"protein_id": "ENSP00000623387.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1314,
"cds_start": 56,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953328.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884279.1",
"protein_id": "ENSP00000554338.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1312,
"cds_start": 56,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884279.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884281.1",
"protein_id": "ENSP00000554340.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1303,
"cds_start": 56,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884281.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884280.1",
"protein_id": "ENSP00000554339.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1273,
"cds_start": 56,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884280.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884274.1",
"protein_id": "ENSP00000554333.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1265,
"cds_start": 56,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884274.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884278.1",
"protein_id": "ENSP00000554337.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1265,
"cds_start": 56,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884278.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000428043.5",
"protein_id": "ENSP00000397593.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 1242,
"cds_start": 56,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428043.5"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884275.1",
"protein_id": "ENSP00000554334.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1242,
"cds_start": 56,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884275.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884276.1",
"protein_id": "ENSP00000554335.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1209,
"cds_start": 56,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884276.1"
},
{
"aa_ref": "L",
"aa_alt": "PLL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup",
"transcript": "ENST00000884277.1",
"protein_id": "ENSP00000554336.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1183,
"cds_start": 56,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.-186_-181dupCGCTGC",
"hgvs_p": null,
"transcript": "NM_001382700.1",
"protein_id": "NP_001369629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": null,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.-565_-560dupCGCTGC",
"hgvs_p": null,
"transcript": "NM_001382701.1",
"protein_id": "NP_001369630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382701.1"
},
{
"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": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.75_80dupCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000579462.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000579462.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.50_55dupCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000582678.5",
"protein_id": "ENSP00000462995.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000582678.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.84_89dupCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000583336.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000583336.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.84_89dupCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000584529.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000584529.5"
}
],
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"dbsnp": "rs532691783",
"frequency_reference_population": 0.0059782807,
"hom_count_reference_population": 161,
"allele_count_reference_population": 8491,
"gnomad_exomes_af": 0.00553093,
"gnomad_genomes_af": 0.00973643,
"gnomad_exomes_ac": 7020,
"gnomad_genomes_ac": 1471,
"gnomad_exomes_homalt": 131,
"gnomad_genomes_homalt": 30,
"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": 0.014,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000789.4",
"gene_symbol": "ACE",
"hgnc_id": 2707,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.50_55dupCGCTGC",
"hgvs_p": "p.Pro17_Leu18dup"
}
],
"clinvar_disease": "Renal tubular dysgenesis,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Renal tubular dysgenesis|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}