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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: 2-30732493-GCC-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30732493&ref=GCC&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CAPN13",
"hgnc_id": 16663,
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_144575.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144575.3",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295055.12",
"protein_coding": true,
"protein_id": "NP_653176.2",
"strand": false,
"transcript": "NM_144575.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295055.12",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144575.3",
"protein_coding": true,
"protein_id": "ENSP00000295055.8",
"strand": false,
"transcript": "ENST00000295055.12",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946473.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616532.1",
"strand": false,
"transcript": "ENST00000946473.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946475.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616534.1",
"strand": false,
"transcript": "ENST00000946475.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946477.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616536.1",
"strand": false,
"transcript": "ENST00000946477.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 665,
"aa_ref": "G",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1858,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946472.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1858_1860delGGCinsTCG",
"hgvs_p": "p.Gly620Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616531.1",
"strand": false,
"transcript": "ENST00000946472.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 656,
"aa_ref": "G",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946476.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1831_1833delGGCinsTCG",
"hgvs_p": "p.Gly611Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616535.1",
"strand": false,
"transcript": "ENST00000946476.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "G",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946474.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1795_1797delGGCinsTCG",
"hgvs_p": "p.Gly599Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616533.1",
"strand": false,
"transcript": "ENST00000946474.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533159.4",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531461.1",
"strand": false,
"transcript": "XM_011533159.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533160.3",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531462.1",
"strand": false,
"transcript": "XM_011533160.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533161.4",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531463.1",
"strand": false,
"transcript": "XM_011533161.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047446332.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1870_1872delGGCinsTCG",
"hgvs_p": "p.Gly624Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302288.1",
"strand": false,
"transcript": "XM_047446332.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 665,
"aa_ref": "G",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1858,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005266.3",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "c.1858_1860delGGCinsTCG",
"hgvs_p": "p.Gly620Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860755.1",
"strand": false,
"transcript": "XM_017005266.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000450650.5",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "n.*1315_*1317delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403180.1",
"strand": false,
"transcript": "ENST00000450650.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_939741.4",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "n.2047_2049delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_939741.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_939742.3",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "n.2047_2049delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_939742.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000450650.5",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "n.*1315_*1317delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403180.1",
"strand": false,
"transcript": "ENST00000450650.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490786.1",
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"hgvs_c": "n.-11_-9delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000490786.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16663,
"gene_symbol": "CAPN13",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.86,
"pos": 30732493,
"ref": "GCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_144575.3"
}
]
}