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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: 16-546938-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=546938&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 546938,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005632.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "NM_005632.3",
"protein_id": "NP_005623.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1086,
"cds_start": 100,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": "ENST00000219611.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "ENST00000219611.7",
"protein_id": "ENSP00000219611.2",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 1086,
"cds_start": 100,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": "NM_005632.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "ENST00000637507.1",
"protein_id": "ENSP00000490480.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 464,
"cds_start": 304,
"cds_end": null,
"cds_length": 1397,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "ENST00000562370.5",
"protein_id": "ENSP00000456017.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 183,
"cds_start": 100,
"cds_end": null,
"cds_length": 554,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_011522625.3",
"protein_id": "XP_011520927.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1162,
"cds_start": 304,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434525.1",
"protein_id": "XP_047290481.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1162,
"cds_start": 304,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434526.1",
"protein_id": "XP_047290482.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1162,
"cds_start": 304,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434527.1",
"protein_id": "XP_047290483.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1162,
"cds_start": 304,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434528.1",
"protein_id": "XP_047290484.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1162,
"cds_start": 304,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434529.1",
"protein_id": "XP_047290485.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1154,
"cds_start": 304,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Asp101Asn",
"transcript": "XM_047434534.1",
"protein_id": "XP_047290490.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1153,
"cds_start": 301,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 6506,
"cdna_end": null,
"cdna_length": 10787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Asp102Asn",
"transcript": "XM_047434530.1",
"protein_id": "XP_047290486.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1098,
"cds_start": 304,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 5810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_011522628.4",
"protein_id": "XP_011520930.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1094,
"cds_start": 100,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_011522629.4",
"protein_id": "XP_011520931.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1094,
"cds_start": 100,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_011522631.3",
"protein_id": "XP_011520933.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1094,
"cds_start": 100,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_047434531.1",
"protein_id": "XP_047290487.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1094,
"cds_start": 100,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_047434532.1",
"protein_id": "XP_047290488.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1094,
"cds_start": 100,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_047434533.1",
"protein_id": "XP_047290489.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1086,
"cds_start": 100,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn",
"transcript": "XM_047434535.1",
"protein_id": "XP_047290491.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 1030,
"cds_start": 100,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"hgvs_c": "c.-314-621G>A",
"hgvs_p": null,
"transcript": "ENST00000568988.5",
"protein_id": "ENSP00000457030.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261691",
"gene_hgnc_id": 58544,
"hgvs_c": "n.*247C>T",
"hgvs_p": null,
"transcript": "ENST00000565879.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAPN15",
"gene_hgnc_id": 11182,
"dbsnp": "rs769811257",
"frequency_reference_population": 0.0000353897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000335982,
"gnomad_genomes_af": 0.0000525527,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3435102701187134,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.18,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.992,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005632.3",
"gene_symbol": "CAPN15",
"hgnc_id": 11182,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Asp34Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000565879.1",
"gene_symbol": "ENSG00000261691",
"hgnc_id": 58544,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*247C>T",
"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
}