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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: 3-148741765-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=148741765&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 148741765,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000349243.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_000685.5",
"protein_id": "NP_000676.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": "ENST00000349243.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000349243.8",
"protein_id": "ENSP00000273430.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": "NM_000685.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000404754.2",
"protein_id": "ENSP00000385612.2",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000497524.5",
"protein_id": "ENSP00000419422.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_001382736.1",
"protein_id": "NP_001369665.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_001382737.1",
"protein_id": "NP_001369666.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_004835.5",
"protein_id": "NP_004826.6",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_009585.4",
"protein_id": "NP_033611.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_031850.4",
"protein_id": "NP_114038.5",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "NM_032049.4",
"protein_id": "NP_114438.3",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000402260.2",
"protein_id": "ENSP00000385641.3",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000418473.7",
"protein_id": "ENSP00000398832.4",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000461609.1",
"protein_id": "ENSP00000418851.1",
"transcript_support_level": 3,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000474935.5",
"protein_id": "ENSP00000418084.1",
"transcript_support_level": 3,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000475347.5",
"protein_id": "ENSP00000419783.1",
"transcript_support_level": 3,
"aa_start": 244,
"aa_end": null,
"aa_length": 359,
"cds_start": 730,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"dbsnp": "rs12721225",
"frequency_reference_population": 0.0037502262,
"hom_count_reference_population": 32,
"allele_count_reference_population": 6050,
"gnomad_exomes_af": 0.00387035,
"gnomad_genomes_af": 0.00259653,
"gnomad_exomes_ac": 5655,
"gnomad_genomes_ac": 395,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008590668439865112,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.1958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.859,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000349243.8",
"gene_symbol": "AGTR1",
"hgnc_id": 336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser"
}
],
"clinvar_disease": "Renal tubular dysgenesis,Renal tubular dysgenesis of genetic origin,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not provided|Renal tubular dysgenesis|Renal tubular dysgenesis of genetic origin",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}