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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: 3-148741608-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=148741608&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 148741608,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000349243.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_000685.5",
"protein_id": "NP_000676.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": "ENST00000349243.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000349243.8",
"protein_id": "ENSP00000273430.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": "NM_000685.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000404754.2",
"protein_id": "ENSP00000385612.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000497524.5",
"protein_id": "ENSP00000419422.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_001382736.1",
"protein_id": "NP_001369665.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_001382737.1",
"protein_id": "NP_001369666.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_004835.5",
"protein_id": "NP_004826.6",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_009585.4",
"protein_id": "NP_033611.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_031850.4",
"protein_id": "NP_114038.5",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "NM_032049.4",
"protein_id": "NP_114438.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000402260.2",
"protein_id": "ENSP00000385641.3",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000418473.7",
"protein_id": "ENSP00000398832.4",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000461609.1",
"protein_id": "ENSP00000418851.1",
"transcript_support_level": 3,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000474935.5",
"protein_id": "ENSP00000418084.1",
"transcript_support_level": 3,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.573C>G",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000475347.5",
"protein_id": "ENSP00000419783.1",
"transcript_support_level": 3,
"aa_start": 191,
"aa_end": null,
"aa_length": 359,
"cds_start": 573,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGTR1",
"gene_hgnc_id": 336,
"dbsnp": "rs5182",
"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": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.186,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000349243.8",
"gene_symbol": "AGTR1",
"hgnc_id": 336,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Leu191Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}