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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: 15-63326313-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63326313&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63326313,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001218.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1037C>G",
"hgvs_p": "p.Thr346Ser",
"transcript": "NM_001218.5",
"protein_id": "NP_001209.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 354,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000178638.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001218.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1037C>G",
"hgvs_p": "p.Thr346Ser",
"transcript": "ENST00000178638.8",
"protein_id": "ENSP00000178638.3",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 354,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001218.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000178638.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1004C>G",
"hgvs_p": "p.Thr335Ser",
"transcript": "ENST00000344366.7",
"protein_id": "ENSP00000343088.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 343,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344366.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Thr344Ser",
"transcript": "ENST00000907869.1",
"protein_id": "ENSP00000577928.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 352,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907869.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1016C>G",
"hgvs_p": "p.Thr339Ser",
"transcript": "ENST00000907867.1",
"protein_id": "ENSP00000577926.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 347,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907867.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.1004C>G",
"hgvs_p": "p.Thr335Ser",
"transcript": "NM_206925.3",
"protein_id": "NP_996808.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 343,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206925.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000907870.1",
"protein_id": "ENSP00000577929.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 327,
"cds_start": 956,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907870.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.923C>G",
"hgvs_p": "p.Thr308Ser",
"transcript": "ENST00000925046.1",
"protein_id": "ENSP00000595105.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 316,
"cds_start": 923,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925046.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Thr286Ser",
"transcript": "ENST00000907868.1",
"protein_id": "ENSP00000577927.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 294,
"cds_start": 857,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907868.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Thr275Ser",
"transcript": "NM_001293642.2",
"protein_id": "NP_001280571.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 283,
"cds_start": 824,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293642.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Thr275Ser",
"transcript": "ENST00000422263.2",
"protein_id": "ENSP00000403028.2",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 283,
"cds_start": 824,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422263.2"
},
{
"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": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "n.247C>G",
"hgvs_p": null,
"transcript": "ENST00000560666.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000560666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "n.1177C>G",
"hgvs_p": null,
"transcript": "NR_135511.2",
"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": "NR_135511.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903506",
"gene_hgnc_id": null,
"hgvs_c": "n.767+7559G>C",
"hgvs_p": null,
"transcript": "XR_007064676.1",
"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_007064676.1"
}
],
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"dbsnp": "rs770395993",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05362576246261597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.899,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001218.5",
"gene_symbol": "CA12",
"hgnc_id": 1371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1037C>G",
"hgvs_p": "p.Thr346Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007064676.1",
"gene_symbol": "LOC124903506",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.767+7559G>C",
"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
}