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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: 5-134666879-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134666879&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134666879,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021982.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "NM_021982.3",
"protein_id": "NP_068817.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1093,
"cds_start": 622,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398844.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021982.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000398844.7",
"protein_id": "ENSP00000381823.2",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 1093,
"cds_start": 622,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398844.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000322887.8",
"protein_id": "ENSP00000321749.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 613,
"cds_start": 622,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322887.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000903398.1",
"protein_id": "ENSP00000573457.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1133,
"cds_start": 622,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903398.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000939612.1",
"protein_id": "ENSP00000609671.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1117,
"cds_start": 622,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939612.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000939610.1",
"protein_id": "ENSP00000609669.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1067,
"cds_start": 622,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939610.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000939614.1",
"protein_id": "ENSP00000609673.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1067,
"cds_start": 622,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939614.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000939611.1",
"protein_id": "ENSP00000609670.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1047,
"cds_start": 622,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939611.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "ENST00000939613.1",
"protein_id": "ENSP00000609672.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1035,
"cds_start": 622,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939613.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "NM_001252231.2",
"protein_id": "NP_001239160.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 613,
"cds_start": 622,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252231.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Ala182Pro",
"transcript": "XM_017008961.3",
"protein_id": "XP_016864450.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1067,
"cds_start": 544,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008961.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro",
"transcript": "XM_047416649.1",
"protein_id": "XP_047272605.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 862,
"cds_start": 622,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416649.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.566-4930G>C",
"hgvs_p": null,
"transcript": "ENST00000903397.1",
"protein_id": "ENSP00000573456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903397.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.566-4930G>C",
"hgvs_p": null,
"transcript": "XM_006714523.3",
"protein_id": "XP_006714586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714523.3"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.488-4930G>C",
"hgvs_p": null,
"transcript": "XM_047416648.1",
"protein_id": "XP_047272604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": null,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416648.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"hgvs_c": "c.566-4930G>C",
"hgvs_p": null,
"transcript": "XM_017008963.3",
"protein_id": "XP_016864452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": null,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008963.3"
}
],
"gene_symbol": "SEC24A",
"gene_hgnc_id": 10703,
"dbsnp": "rs772083075",
"frequency_reference_population": 0.000029739998,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000171019,
"gnomad_genomes_af": 0.000151155,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09037673473358154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.033,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021982.3",
"gene_symbol": "SEC24A",
"hgnc_id": 10703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Ala208Pro"
}
],
"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
}