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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: 2-158340259-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=158340259&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 158340259,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000283233.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "NM_138803.4",
"protein_id": "NP_620158.3",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 591,
"cds_start": 469,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "ENST00000283233.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "ENST00000283233.10",
"protein_id": "ENSP00000283233.5",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 591,
"cds_start": 469,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "NM_138803.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "ENST00000409889.1",
"protein_id": "ENSP00000386583.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 255,
"cds_start": 469,
"cds_end": null,
"cds_length": 768,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1160,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.*195A>G",
"hgvs_p": null,
"transcript": "ENST00000417066.5",
"protein_id": "ENSP00000400751.1",
"transcript_support_level": 1,
"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": 1447,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.*224A>G",
"hgvs_p": null,
"transcript": "ENST00000451554.1",
"protein_id": "ENSP00000415343.1",
"transcript_support_level": 1,
"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": 1471,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.*195A>G",
"hgvs_p": null,
"transcript": "ENST00000417066.5",
"protein_id": "ENSP00000400751.1",
"transcript_support_level": 1,
"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": 1447,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.*224A>G",
"hgvs_p": null,
"transcript": "ENST00000451554.1",
"protein_id": "ENSP00000415343.1",
"transcript_support_level": 1,
"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": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.*77+339A>G",
"hgvs_p": null,
"transcript": "ENST00000448656.5",
"protein_id": "ENSP00000415540.1",
"transcript_support_level": 1,
"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": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Met166Val",
"transcript": "ENST00000409187.5",
"protein_id": "ENSP00000386674.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 600,
"cds_start": 496,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Met166Val",
"transcript": "ENST00000707084.1",
"protein_id": "ENSP00000516735.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 600,
"cds_start": 496,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "NM_001301685.2",
"protein_id": "NP_001288614.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 255,
"cds_start": 469,
"cds_end": null,
"cds_length": 768,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1211,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "c.48+339A>G",
"hgvs_p": null,
"transcript": "NM_001301684.2",
"protein_id": "NP_001288613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"hgvs_c": "n.147+18190A>G",
"hgvs_p": null,
"transcript": "ENST00000454257.5",
"protein_id": "ENSP00000398372.1",
"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": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC148",
"gene_hgnc_id": 25191,
"dbsnp": "rs12620556",
"frequency_reference_population": 0.097193845,
"hom_count_reference_population": 11744,
"allele_count_reference_population": 156797,
"gnomad_exomes_af": 0.0896679,
"gnomad_genomes_af": 0.16946,
"gnomad_exomes_ac": 131012,
"gnomad_genomes_ac": 25785,
"gnomad_exomes_homalt": 8262,
"gnomad_genomes_homalt": 3482,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00104561448097229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.279,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000283233.10",
"gene_symbol": "CCDC148",
"hgnc_id": 25191,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}