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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: 3-98593373-G-GGCTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98593373&ref=G&alt=GGCTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 98593373,
"ref": "G",
"alt": "GGCTGC",
"effect": "frameshift_variant",
"transcript": "NM_000097.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "NM_000097.7",
"protein_id": "NP_000088.3",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 454,
"cds_start": 131,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647941.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000097.7"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000647941.2",
"protein_id": "ENSP00000497326.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 454,
"cds_start": 131,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000097.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647941.2"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000946176.1",
"protein_id": "ENSP00000616235.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 483,
"cds_start": 131,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946176.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000932270.1",
"protein_id": "ENSP00000602329.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 453,
"cds_start": 131,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932270.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000890710.1",
"protein_id": "ENSP00000560769.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 419,
"cds_start": 131,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890710.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000890711.1",
"protein_id": "ENSP00000560770.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 417,
"cds_start": 131,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890711.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "ENST00000890712.1",
"protein_id": "ENSP00000560771.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 399,
"cds_start": 131,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890712.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "XM_005247125.5",
"protein_id": "XP_005247182.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 405,
"cds_start": 131,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247125.5"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "XM_047447473.1",
"protein_id": "XP_047303429.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 317,
"cds_start": 131,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447473.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "XM_047447474.1",
"protein_id": "XP_047303430.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 280,
"cds_start": 131,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447474.1"
},
{
"aa_ref": "A",
"aa_alt": "AQ?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs",
"transcript": "XM_047447475.1",
"protein_id": "XP_047303431.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 275,
"cds_start": 131,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447475.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "n.127_131dupGCAGC",
"hgvs_p": null,
"transcript": "ENST00000513674.1",
"protein_id": "ENSP00000424924.1",
"transcript_support_level": 5,
"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": "ENST00000513674.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "n.233_237dupGCAGC",
"hgvs_p": null,
"transcript": "ENST00000515041.1",
"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": "retained_intron",
"feature": "ENST00000515041.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"hgvs_c": "n.234_238dupGCAGC",
"hgvs_p": null,
"transcript": "XR_001740025.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001740025.3"
}
],
"gene_symbol": "CPOX",
"gene_hgnc_id": 2321,
"dbsnp": "rs786205053",
"frequency_reference_population": 0.000005202388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000418899,
"gnomad_genomes_af": 0.000013164,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_000097.7",
"gene_symbol": "CPOX",
"hgnc_id": 2321,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.127_131dupGCAGC",
"hgvs_p": "p.Gly45fs"
}
],
"clinvar_disease": "CPOX-related disorder,Coproporphyria,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Coproporphyria|not provided|CPOX-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}