← 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: 4-174493236-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=174493236&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 174493236,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000296522.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Ser193Pro",
"transcript": "NM_000860.6",
"protein_id": "NP_000851.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 266,
"cds_start": 577,
"cds_end": null,
"cds_length": 801,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": "ENST00000296522.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Ser193Pro",
"transcript": "ENST00000296522.11",
"protein_id": "ENSP00000296522.6",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 266,
"cds_start": 577,
"cds_end": null,
"cds_length": 801,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": "NM_000860.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.499-1142T>C",
"hgvs_p": null,
"transcript": "ENST00000296521.11",
"protein_id": "ENSP00000296521.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.422-1142T>C",
"hgvs_p": null,
"transcript": "ENST00000542498.5",
"protein_id": "ENSP00000443644.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "NM_001256306.2",
"protein_id": "NP_001243235.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 198,
"cds_start": 373,
"cds_end": null,
"cds_length": 597,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "ENST00000422112.6",
"protein_id": "ENSP00000398720.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 198,
"cds_start": 373,
"cds_end": null,
"cds_length": 597,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "NM_001256301.1",
"protein_id": "NP_001243230.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 145,
"cds_start": 214,
"cds_end": null,
"cds_length": 438,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "NM_001256307.2",
"protein_id": "NP_001243236.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 145,
"cds_start": 214,
"cds_end": null,
"cds_length": 438,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "ENST00000510901.5",
"protein_id": "ENSP00000422418.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 145,
"cds_start": 214,
"cds_end": null,
"cds_length": 438,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "ENST00000541923.5",
"protein_id": "ENSP00000438017.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 145,
"cds_start": 214,
"cds_end": null,
"cds_length": 438,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "ENST00000506910.5",
"protein_id": "ENSP00000423066.1",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 98,
"cds_start": 214,
"cds_end": null,
"cds_length": 298,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Ser72Pro",
"transcript": "ENST00000514584.5",
"protein_id": "ENSP00000423110.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 96,
"cds_start": 214,
"cds_end": null,
"cds_length": 291,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 827,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.*206T>C",
"hgvs_p": null,
"transcript": "ENST00000508330.5",
"protein_id": "ENSP00000425741.1",
"transcript_support_level": 2,
"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": 1046,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.226T>C",
"hgvs_p": null,
"transcript": "ENST00000509512.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 536,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.*339T>C",
"hgvs_p": null,
"transcript": "ENST00000510835.5",
"protein_id": "ENSP00000427699.1",
"transcript_support_level": 5,
"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": 1553,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.361T>C",
"hgvs_p": null,
"transcript": "ENST00000511499.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 786,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.*206T>C",
"hgvs_p": null,
"transcript": "ENST00000508330.5",
"protein_id": "ENSP00000425741.1",
"transcript_support_level": 2,
"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": 1046,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "n.*339T>C",
"hgvs_p": null,
"transcript": "ENST00000510835.5",
"protein_id": "ENSP00000427699.1",
"transcript_support_level": 5,
"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": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.499-1142T>C",
"hgvs_p": null,
"transcript": "NM_001145816.3",
"protein_id": "NP_001139288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"hgvs_c": "c.422-1142T>C",
"hgvs_p": null,
"transcript": "NM_001256305.2",
"protein_id": "NP_001243234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HPGD",
"gene_hgnc_id": 5154,
"dbsnp": "rs121434481",
"frequency_reference_population": 0.0000013693021,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013693,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6982801556587219,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.12,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000296522.11",
"gene_symbol": "HPGD",
"hgnc_id": 5154,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Ser193Pro"
}
],
"clinvar_disease": "Isolated congenital digital clubbing,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Isolated congenital digital clubbing|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}