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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: 12-123659807-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123659807&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123659807,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000543341.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Pro233Ala",
"transcript": "NM_001516.5",
"protein_id": "NP_001507.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 308,
"cds_start": 697,
"cds_end": null,
"cds_length": 927,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": "ENST00000543341.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Pro233Ala",
"transcript": "ENST00000543341.7",
"protein_id": "ENSP00000445162.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 308,
"cds_start": 697,
"cds_end": null,
"cds_length": 927,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": "NM_001516.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Pro192Ala",
"transcript": "NM_001271867.2",
"protein_id": "NP_001258796.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 267,
"cds_start": 574,
"cds_end": null,
"cds_length": 804,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Pro192Ala",
"transcript": "ENST00000228955.11",
"protein_id": "ENSP00000228955.7",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 267,
"cds_start": 574,
"cds_end": null,
"cds_length": 804,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Pro190Ala",
"transcript": "NM_001271866.2",
"protein_id": "NP_001258795.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 265,
"cds_start": 568,
"cds_end": null,
"cds_length": 798,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Pro190Ala",
"transcript": "ENST00000536375.5",
"protein_id": "ENSP00000441894.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 257,
"cds_start": 568,
"cds_end": null,
"cds_length": 775,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "ENST00000543154.1",
"protein_id": "ENSP00000438435.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 193,
"cds_start": 355,
"cds_end": null,
"cds_length": 582,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Pro87Ala",
"transcript": "NM_001271868.2",
"protein_id": "NP_001258797.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 162,
"cds_start": 259,
"cds_end": null,
"cds_length": 489,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Pro87Ala",
"transcript": "ENST00000618160.4",
"protein_id": "ENSP00000481711.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 162,
"cds_start": 259,
"cds_end": null,
"cds_length": 489,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"transcript": "ENST00000538533.5",
"protein_id": "ENSP00000442977.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 147,
"cds_start": 422,
"cds_end": null,
"cds_length": 445,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Pro87Ala",
"transcript": "XM_017019228.3",
"protein_id": "XP_016874717.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 162,
"cds_start": 259,
"cds_end": null,
"cds_length": 489,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "n.235C>G",
"hgvs_p": null,
"transcript": "ENST00000539429.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "n.551C>G",
"hgvs_p": null,
"transcript": "ENST00000543415.5",
"protein_id": "ENSP00000440482.1",
"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": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"hgvs_c": "n.*539C>G",
"hgvs_p": null,
"transcript": "ENST00000542279.5",
"protein_id": "ENSP00000439121.1",
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GTF2H3",
"gene_hgnc_id": 4657,
"dbsnp": null,
"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": 0.8883234262466431,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.754,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.813,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000543341.7",
"gene_symbol": "GTF2H3",
"hgnc_id": 4657,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Pro233Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}