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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: 1-230759550-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230759550&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 230759550,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006615.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "NM_006615.3",
"protein_id": "NP_006606.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 690,
"cds_start": 322,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271971.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006615.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "ENST00000271971.7",
"protein_id": "ENSP00000271971.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 690,
"cds_start": 322,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006615.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271971.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "ENST00000354537.1",
"protein_id": "ENSP00000346538.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 664,
"cds_start": 322,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.214-3103C>T",
"hgvs_p": null,
"transcript": "ENST00000366666.6",
"protein_id": "ENSP00000355626.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 627,
"cds_start": null,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366666.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "NM_016452.3",
"protein_id": "NP_057536.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 664,
"cds_start": 322,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016452.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "ENST00000907308.1",
"protein_id": "ENSP00000577367.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 663,
"cds_start": 322,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907308.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "ENST00000907306.1",
"protein_id": "ENSP00000577365.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 662,
"cds_start": 322,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907306.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "ENST00000907307.1",
"protein_id": "ENSP00000577366.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 661,
"cds_start": 322,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907307.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "XM_011544017.2",
"protein_id": "XP_011542319.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 721,
"cds_start": 322,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544017.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "XM_011544018.2",
"protein_id": "XP_011542320.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 695,
"cds_start": 322,
"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_011544018.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "XM_017000098.2",
"protein_id": "XP_016855587.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000098.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe",
"transcript": "XM_047439807.1",
"protein_id": "XP_047295763.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 541,
"cds_start": 322,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.-264C>T",
"hgvs_p": null,
"transcript": "XM_047439808.1",
"protein_id": "XP_047295764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439808.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.214-3103C>T",
"hgvs_p": null,
"transcript": "NM_001319676.2",
"protein_id": "NP_001306605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 627,
"cds_start": null,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.214-3103C>T",
"hgvs_p": null,
"transcript": "ENST00000940880.1",
"protein_id": "ENSP00000610939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "c.214-3103C>T",
"hgvs_p": null,
"transcript": "XM_011544019.3",
"protein_id": "XP_011542321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": null,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544019.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"hgvs_c": "n.431C>T",
"hgvs_p": null,
"transcript": "XR_949127.2",
"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": "XR_949127.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN9-AS1",
"gene_hgnc_id": 58238,
"hgvs_c": "n.380+35563G>A",
"hgvs_p": null,
"transcript": "ENST00000412344.1",
"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": "ENST00000412344.1"
}
],
"gene_symbol": "CAPN9",
"gene_hgnc_id": 1486,
"dbsnp": "rs1048809170",
"frequency_reference_population": 0.0000037228142,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342584,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6438695192337036,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.3314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.509,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006615.3",
"gene_symbol": "CAPN9",
"hgnc_id": 1486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Leu108Phe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000412344.1",
"gene_symbol": "CAPN9-AS1",
"hgnc_id": 58238,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.380+35563G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}