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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: 1-181794864-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=181794864&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 181794864,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001205293.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6028G>A",
"hgvs_p": "p.Val2010Met",
"transcript": "NM_001205293.3",
"protein_id": "NP_001192222.1",
"transcript_support_level": null,
"aa_start": 2010,
"aa_end": null,
"aa_length": 2313,
"cds_start": 6028,
"cds_end": null,
"cds_length": 6942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367573.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205293.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6028G>A",
"hgvs_p": "p.Val2010Met",
"transcript": "ENST00000367573.7",
"protein_id": "ENSP00000356545.2",
"transcript_support_level": 1,
"aa_start": 2010,
"aa_end": null,
"aa_length": 2313,
"cds_start": 6028,
"cds_end": null,
"cds_length": 6942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001205293.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367573.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5971G>A",
"hgvs_p": "p.Val1991Met",
"transcript": "ENST00000360108.7",
"protein_id": "ENSP00000353222.3",
"transcript_support_level": 5,
"aa_start": 1991,
"aa_end": null,
"aa_length": 2294,
"cds_start": 5971,
"cds_end": null,
"cds_length": 6885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360108.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5899G>A",
"hgvs_p": "p.Val1967Met",
"transcript": "ENST00000367570.6",
"protein_id": "ENSP00000356542.1",
"transcript_support_level": 1,
"aa_start": 1967,
"aa_end": null,
"aa_length": 2270,
"cds_start": 5899,
"cds_end": null,
"cds_length": 6813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367570.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5842G>A",
"hgvs_p": "p.Val1948Met",
"transcript": "ENST00000621791.4",
"protein_id": "ENSP00000481619.1",
"transcript_support_level": 1,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5842,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621791.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5899G>A",
"hgvs_p": "p.Val1967Met",
"transcript": "NM_000721.4",
"protein_id": "NP_000712.2",
"transcript_support_level": null,
"aa_start": 1967,
"aa_end": null,
"aa_length": 2270,
"cds_start": 5899,
"cds_end": null,
"cds_length": 6813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000721.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5842G>A",
"hgvs_p": "p.Val1948Met",
"transcript": "NM_001205294.2",
"protein_id": "NP_001192223.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5842,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205294.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000700190.1",
"protein_id": "ENSP00000514852.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 170,
"cds_start": 127,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700190.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6463G>A",
"hgvs_p": "p.Val2155Met",
"transcript": "XM_017002243.2",
"protein_id": "XP_016857732.1",
"transcript_support_level": null,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6463,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002243.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6463G>A",
"hgvs_p": "p.Val2155Met",
"transcript": "XM_017002244.2",
"protein_id": "XP_016857733.1",
"transcript_support_level": null,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6463,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002244.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6463G>A",
"hgvs_p": "p.Val2155Met",
"transcript": "XM_017002251.1",
"protein_id": "XP_016857740.1",
"transcript_support_level": null,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6463,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002251.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6451G>A",
"hgvs_p": "p.Val2151Met",
"transcript": "XM_017002245.2",
"protein_id": "XP_016857734.1",
"transcript_support_level": null,
"aa_start": 2151,
"aa_end": null,
"aa_length": 2454,
"cds_start": 6451,
"cds_end": null,
"cds_length": 7365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002245.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6451G>A",
"hgvs_p": "p.Val2151Met",
"transcript": "XM_017002246.2",
"protein_id": "XP_016857735.1",
"transcript_support_level": null,
"aa_start": 2151,
"aa_end": null,
"aa_length": 2454,
"cds_start": 6451,
"cds_end": null,
"cds_length": 7365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002246.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6406G>A",
"hgvs_p": "p.Val2136Met",
"transcript": "XM_017002247.2",
"protein_id": "XP_016857736.1",
"transcript_support_level": null,
"aa_start": 2136,
"aa_end": null,
"aa_length": 2439,
"cds_start": 6406,
"cds_end": null,
"cds_length": 7320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002247.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6397G>A",
"hgvs_p": "p.Val2133Met",
"transcript": "XM_017002248.2",
"protein_id": "XP_016857737.1",
"transcript_support_level": null,
"aa_start": 2133,
"aa_end": null,
"aa_length": 2436,
"cds_start": 6397,
"cds_end": null,
"cds_length": 7311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002248.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6394G>A",
"hgvs_p": "p.Val2132Met",
"transcript": "XM_047429979.1",
"protein_id": "XP_047285935.1",
"transcript_support_level": null,
"aa_start": 2132,
"aa_end": null,
"aa_length": 2435,
"cds_start": 6394,
"cds_end": null,
"cds_length": 7308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429979.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6334G>A",
"hgvs_p": "p.Val2112Met",
"transcript": "XM_017002249.2",
"protein_id": "XP_016857738.1",
"transcript_support_level": null,
"aa_start": 2112,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6334,
"cds_end": null,
"cds_length": 7248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002249.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Val2093Met",
"transcript": "XM_017002250.2",
"protein_id": "XP_016857739.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2396,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002250.2"
}
],
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"dbsnp": "rs1553360130",
"frequency_reference_population": 0.0000020604878,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000206049,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4824298918247223,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7120000123977661,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1169,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.536,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.977580393516651,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001205293.3",
"gene_symbol": "CACNA1E",
"hgnc_id": 1392,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6028G>A",
"hgvs_p": "p.Val2010Met"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}