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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: 10-123756313-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=123756313&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 123756313,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_198148.3",
"consequences": [
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1917+900G>A",
"hgvs_p": null,
"transcript": "NM_198148.3",
"protein_id": "NP_937791.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000241305.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198148.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1917+900G>A",
"hgvs_p": null,
"transcript": "ENST00000241305.4",
"protein_id": "ENSP00000241305.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198148.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241305.4"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1914+900G>A",
"hgvs_p": null,
"transcript": "ENST00000909350.1",
"protein_id": "ENSP00000579409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": null,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909350.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1818+900G>A",
"hgvs_p": null,
"transcript": "ENST00000909348.1",
"protein_id": "ENSP00000579407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909348.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1737+900G>A",
"hgvs_p": null,
"transcript": "ENST00000909347.1",
"protein_id": "ENSP00000579406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": null,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909347.1"
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1704+900G>A",
"hgvs_p": null,
"transcript": "ENST00000909349.1",
"protein_id": "ENSP00000579408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909349.1"
},
{
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.405+900G>A",
"hgvs_p": null,
"transcript": "ENST00000615851.4",
"protein_id": "ENSP00000483180.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615851.4"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1917+900G>A",
"hgvs_p": null,
"transcript": "XM_005269528.4",
"protein_id": "XP_005269585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": null,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269528.4"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1917+900G>A",
"hgvs_p": null,
"transcript": "XM_011539283.3",
"protein_id": "XP_011537585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539283.3"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1590+900G>A",
"hgvs_p": null,
"transcript": "XM_011539285.3",
"protein_id": "XP_011537587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539285.3"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1590+900G>A",
"hgvs_p": null,
"transcript": "XM_017015673.2",
"protein_id": "XP_016871162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015673.2"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1236+900G>A",
"hgvs_p": null,
"transcript": "XM_011539286.2",
"protein_id": "XP_011537588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539286.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.936+900G>A",
"hgvs_p": null,
"transcript": "XM_017015674.2",
"protein_id": "XP_016871163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": null,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015674.2"
},
{
"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": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "n.1964+900G>A",
"hgvs_p": null,
"transcript": "ENST00000368854.7",
"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": "ENST00000368854.7"
}
],
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"dbsnp": "rs1896376",
"frequency_reference_population": 0.045704152,
"hom_count_reference_population": 200,
"allele_count_reference_population": 6958,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0457042,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 6958,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 200,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.085,
"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": "NM_198148.3",
"gene_symbol": "CPXM2",
"hgnc_id": 26977,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1917+900G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}