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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: 1-38839633-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=38839633&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 38839633,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022157.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.His374Tyr",
"transcript": "NM_022157.4",
"protein_id": "NP_071440.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 399,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373001.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022157.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.His374Tyr",
"transcript": "ENST00000373001.4",
"protein_id": "ENSP00000362092.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 399,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373001.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.His381Tyr",
"transcript": "ENST00000865048.1",
"protein_id": "ENSP00000535107.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 406,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865048.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.His380Tyr",
"transcript": "ENST00000865049.1",
"protein_id": "ENSP00000535108.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 405,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865049.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.His375Tyr",
"transcript": "ENST00000865047.1",
"protein_id": "ENSP00000535106.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 400,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865047.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.His371Tyr",
"transcript": "ENST00000928168.1",
"protein_id": "ENSP00000598227.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 396,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928168.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.His340Tyr",
"transcript": "NM_001271851.2",
"protein_id": "NP_001258780.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 365,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271851.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.His340Tyr",
"transcript": "ENST00000865051.1",
"protein_id": "ENSP00000535110.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 365,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865051.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.His288Tyr",
"transcript": "ENST00000865050.1",
"protein_id": "ENSP00000535109.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 313,
"cds_start": 862,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"hgvs_c": "n.2208C>T",
"hgvs_p": null,
"transcript": "ENST00000474456.1",
"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": "ENST00000474456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273637",
"gene_hgnc_id": null,
"hgvs_c": "n.1871C>T",
"hgvs_p": null,
"transcript": "ENST00000622355.1",
"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": "pseudogene",
"feature": "ENST00000622355.1"
}
],
"gene_symbol": "RRAGC",
"gene_hgnc_id": 19902,
"dbsnp": "rs139732615",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17013466358184814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.0863,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.539,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.17,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022157.4",
"gene_symbol": "RRAGC",
"hgnc_id": 19902,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.His374Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000622355.1",
"gene_symbol": "ENSG00000273637",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1871C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}