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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: 17-63483172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63483172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63483172,
"ref": "C",
"alt": "T",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_000789.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "NM_000789.4",
"protein_id": "NP_000780.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290866.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000789.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000290866.10",
"protein_id": "ENSP00000290866.4",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000789.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290866.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000953328.1",
"protein_id": "ENSP00000623387.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1314,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953328.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884279.1",
"protein_id": "ENSP00000554338.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884279.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884281.1",
"protein_id": "ENSP00000554340.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884281.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884280.1",
"protein_id": "ENSP00000554339.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884280.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884274.1",
"protein_id": "ENSP00000554333.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884274.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884278.1",
"protein_id": "ENSP00000554337.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884278.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000428043.5",
"protein_id": "ENSP00000397593.2",
"transcript_support_level": 2,
"aa_start": 496,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428043.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884275.1",
"protein_id": "ENSP00000554334.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884275.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"transcript": "ENST00000884276.1",
"protein_id": "ENSP00000554335.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1209,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884276.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307*",
"transcript": "NM_001382700.1",
"protein_id": "NP_001369629.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 1117,
"cds_start": 919,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382700.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212*",
"transcript": "NM_001382701.1",
"protein_id": "NP_001369630.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 1022,
"cds_start": 634,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1119-288C>T",
"hgvs_p": null,
"transcript": "ENST00000884277.1",
"protein_id": "ENSP00000554336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": null,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*885C>T",
"hgvs_p": null,
"transcript": "ENST00000582678.5",
"protein_id": "ENSP00000462995.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000582678.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*885C>T",
"hgvs_p": null,
"transcript": "ENST00000582678.5",
"protein_id": "ENSP00000462995.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000582678.5"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.1377-288C>T",
"hgvs_p": null,
"transcript": "ENST00000584529.5",
"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": "ENST00000584529.5"
}
],
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"dbsnp": "rs397514688",
"frequency_reference_population": 0.000017971479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000171048,
"gnomad_genomes_af": 0.0000262995,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.8399999737739563,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.32,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.99715268836516,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PVS1",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000789.4",
"gene_symbol": "ACE",
"hgnc_id": 2707,
"effects": [
"stop_gained",
"splice_region_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*"
}
],
"clinvar_disease": "Abnormality of prenatal development or birth,Renal tubular dysgenesis,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Renal tubular dysgenesis|not provided|Abnormality of prenatal development or birth",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}