← Back to variant description
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: 19-40397250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40397250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40397250,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000324001.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368*",
"transcript": "NM_181882.3",
"protein_id": "NP_870998.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 1461,
"cds_start": 1102,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": "ENST00000324001.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368*",
"transcript": "ENST00000324001.8",
"protein_id": "ENSP00000326018.6",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 1461,
"cds_start": 1102,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": "NM_181882.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.*1307C>T",
"hgvs_p": null,
"transcript": "ENST00000291825.11",
"protein_id": "ENSP00000291825.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463*",
"transcript": "NM_001411127.1",
"protein_id": "NP_001398056.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1556,
"cds_start": 1387,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463*",
"transcript": "ENST00000674005.2",
"protein_id": "ENSP00000501261.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1556,
"cds_start": 1387,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.961C>T",
"hgvs_p": "p.Arg321*",
"transcript": "ENST00000676076.1",
"protein_id": "ENSP00000502166.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1414,
"cds_start": 961,
"cds_end": null,
"cds_length": 4245,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"transcript": "ENST00000673881.1",
"protein_id": "ENSP00000501070.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1322,
"cds_start": 685,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"transcript": "ENST00000674773.1",
"protein_id": "ENSP00000502579.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1322,
"cds_start": 685,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "XM_017027047.2",
"protein_id": "XP_016882536.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1000,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "n.*852C>T",
"hgvs_p": null,
"transcript": "ENST00000676260.1",
"protein_id": "ENSP00000502436.1",
"transcript_support_level": null,
"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": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.*1307C>T",
"hgvs_p": null,
"transcript": "NM_020956.2",
"protein_id": "NP_066007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.*696C>T",
"hgvs_p": null,
"transcript": "ENST00000676316.1",
"protein_id": "ENSP00000501881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "c.*696C>T",
"hgvs_p": null,
"transcript": "ENST00000675517.1",
"protein_id": "ENSP00000501865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"hgvs_c": "n.*852C>T",
"hgvs_p": null,
"transcript": "ENST00000676260.1",
"protein_id": "ENSP00000502436.1",
"transcript_support_level": null,
"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": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRX",
"gene_hgnc_id": 13797,
"dbsnp": "rs104894715",
"frequency_reference_population": 0.000022307708,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000225798,
"gnomad_genomes_af": 0.0000196969,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"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": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.664,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000324001.8",
"gene_symbol": "PRX",
"hgnc_id": 13797,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368*"
}
],
"clinvar_disease": "Autosomal recessive Dejerine-Sottas syndrome,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4F,Inborn genetic diseases,Peripheral neuropathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "Autosomal recessive Dejerine-Sottas syndrome|not provided|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Peripheral neuropathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}