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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: 2-177629445-G-GGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177629445&ref=G&alt=GGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177629445,
"ref": "G",
"alt": "GGGA",
"effect": "conservative_inframe_insertion",
"transcript": "NM_016953.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2761_2763dupTCC",
"hgvs_p": "p.Ser921dup",
"transcript": "NM_016953.4",
"protein_id": "NP_058649.3",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 933,
"cds_start": 2763,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 9305,
"mane_select": "ENST00000286063.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2761_2763dupTCC",
"hgvs_p": "p.Ser921dup",
"transcript": "ENST00000286063.11",
"protein_id": "ENSP00000286063.5",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 933,
"cds_start": 2763,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 9305,
"mane_select": "NM_016953.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2011_2013dupTCC",
"hgvs_p": "p.Ser671dup",
"transcript": "ENST00000358450.8",
"protein_id": "ENSP00000351232.4",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 683,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1687_1689dupTCC",
"hgvs_p": "p.Ser563dup",
"transcript": "ENST00000409504.5",
"protein_id": "ENSP00000386539.1",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 575,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1429_1431dupTCC",
"hgvs_p": "p.Ser477dup",
"transcript": "ENST00000389683.7",
"protein_id": "ENSP00000374333.3",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 489,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2011_2013dupTCC",
"hgvs_p": "p.Ser671dup",
"transcript": "NM_001077197.2",
"protein_id": "NP_001070665.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 683,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1687_1689dupTCC",
"hgvs_p": "p.Ser563dup",
"transcript": "NM_001077358.2",
"protein_id": "NP_001070826.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 575,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1429_1431dupTCC",
"hgvs_p": "p.Ser477dup",
"transcript": "NM_001077196.2",
"protein_id": "NP_001070664.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 489,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.367_369dupTCC",
"hgvs_p": "p.Ser123dup",
"transcript": "ENST00000436700.5",
"protein_id": "ENSP00000406922.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 135,
"cds_start": 369,
"cds_end": null,
"cds_length": 408,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1204,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "n.297_299dupTCC",
"hgvs_p": null,
"transcript": "ENST00000478646.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 570,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "n.515_517dupTCC",
"hgvs_p": null,
"transcript": "ENST00000488399.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"dbsnp": "rs3830637",
"frequency_reference_population": 0.7183412,
"hom_count_reference_population": 425175,
"allele_count_reference_population": 1158295,
"gnomad_exomes_af": 0.728702,
"gnomad_genomes_af": 0.61873,
"gnomad_exomes_ac": 1064305,
"gnomad_genomes_ac": 93990,
"gnomad_exomes_homalt": 392977,
"gnomad_genomes_homalt": 32198,
"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": 0.967,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016953.4",
"gene_symbol": "PDE11A",
"hgnc_id": 8773,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2761_2763dupTCC",
"hgvs_p": "p.Ser921dup"
}
],
"clinvar_disease": " 2, primary,Pigmented nodular adrenocortical disease,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|Pigmented nodular adrenocortical disease, primary, 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}