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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: 12-14672883-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14672883&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14672883,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004963.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asp387Gly",
"transcript": "NM_004963.4",
"protein_id": "NP_004954.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1160,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": "ENST00000261170.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004963.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asp387Gly",
"transcript": "ENST00000261170.5",
"protein_id": "ENSP00000261170.3",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1160,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": "NM_004963.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261170.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asp387Gly",
"transcript": "ENST00000867619.1",
"protein_id": "ENSP00000537678.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1160,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867619.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asp387Gly",
"transcript": "ENST00000970783.1",
"protein_id": "ENSP00000640842.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1160,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970783.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.905A>G",
"hgvs_p": "p.Asp302Gly",
"transcript": "ENST00000970784.1",
"protein_id": "ENSP00000640843.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 988,
"cds_start": 905,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970784.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asp305Gly",
"transcript": "XM_011520631.3",
"protein_id": "XP_011518933.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 991,
"cds_start": 914,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520631.3"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.247+569T>C",
"hgvs_p": null,
"transcript": "ENST00000501178.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000501178.2"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.328+4737T>C",
"hgvs_p": null,
"transcript": "ENST00000786473.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786473.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.391+569T>C",
"hgvs_p": null,
"transcript": "ENST00000786475.1",
"protein_id": null,
"transcript_support_level": null,
"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": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786475.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.266+569T>C",
"hgvs_p": null,
"transcript": "ENST00000786476.1",
"protein_id": null,
"transcript_support_level": null,
"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": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786476.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.388+569T>C",
"hgvs_p": null,
"transcript": "ENST00000786477.1",
"protein_id": null,
"transcript_support_level": null,
"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": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786477.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.386+569T>C",
"hgvs_p": null,
"transcript": "ENST00000786478.1",
"protein_id": null,
"transcript_support_level": null,
"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": 894,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786478.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.266+569T>C",
"hgvs_p": null,
"transcript": "ENST00000786479.1",
"protein_id": null,
"transcript_support_level": null,
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786479.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.384+569T>C",
"hgvs_p": null,
"transcript": "NR_186173.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_186173.1"
}
],
"gene_symbol": "GUCY2C",
"gene_hgnc_id": 4688,
"dbsnp": "rs587776905",
"frequency_reference_population": 0.0000013895432,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138954,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2378876805305481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4099999964237213,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0946,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.41,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PS3",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004963.4",
"gene_symbol": "GUCY2C",
"hgnc_id": 4688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asp387Gly"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PS3",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000501178.2",
"gene_symbol": "GUCY2C-AS1",
"hgnc_id": 56054,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.247+569T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Meconium ileus,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Meconium ileus|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}