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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: 7-116893014-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=116893014&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 116893014,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006136.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "NM_006136.3",
"protein_id": "NP_006127.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 286,
"cds_start": 124,
"cds_end": null,
"cds_length": 861,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": "ENST00000361183.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006136.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "ENST00000361183.8",
"protein_id": "ENSP00000354947.2",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 286,
"cds_start": 124,
"cds_end": null,
"cds_length": 861,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": "NM_006136.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361183.8"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Ile19Ile",
"transcript": "ENST00000464223.5",
"protein_id": "ENSP00000420640.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 33,
"cds_start": 57,
"cds_end": null,
"cds_length": 103,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464223.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Ile19Ile",
"transcript": "ENST00000484325.1",
"protein_id": "ENSP00000418262.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 33,
"cds_start": 57,
"cds_end": null,
"cds_length": 103,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484325.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "ENST00000943391.1",
"protein_id": "ENSP00000613450.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 294,
"cds_start": 124,
"cds_end": null,
"cds_length": 885,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943391.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.106A>C",
"hgvs_p": "p.Asn36His",
"transcript": "ENST00000903572.1",
"protein_id": "ENSP00000573631.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 280,
"cds_start": 106,
"cds_end": null,
"cds_length": 843,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903572.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000943392.1",
"protein_id": "ENSP00000613451.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 279,
"cds_start": 103,
"cds_end": null,
"cds_length": 840,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943392.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "ENST00000903570.1",
"protein_id": "ENSP00000573629.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 262,
"cds_start": 124,
"cds_end": null,
"cds_length": 789,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903570.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "ENST00000903571.1",
"protein_id": "ENSP00000573630.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 217,
"cds_start": 124,
"cds_end": null,
"cds_length": 654,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903571.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His",
"transcript": "ENST00000490693.5",
"protein_id": "ENSP00000419484.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 146,
"cds_start": 124,
"cds_end": null,
"cds_length": 441,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490693.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "c.40-23046A>C",
"hgvs_p": null,
"transcript": "ENST00000920349.1",
"protein_id": "ENSP00000590408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920349.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.133A>C",
"hgvs_p": null,
"transcript": "ENST00000417431.5",
"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": 517,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417431.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000426421.5",
"protein_id": "ENSP00000395395.1",
"transcript_support_level": 5,
"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": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426421.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.*91A>C",
"hgvs_p": null,
"transcript": "ENST00000449080.5",
"protein_id": "ENSP00000408150.1",
"transcript_support_level": 5,
"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": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449080.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.122A>C",
"hgvs_p": null,
"transcript": "ENST00000464669.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 898,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.*91A>C",
"hgvs_p": null,
"transcript": "ENST00000449080.5",
"protein_id": "ENSP00000408150.1",
"transcript_support_level": 5,
"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": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449080.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"hgvs_c": "n.122-17A>C",
"hgvs_p": null,
"transcript": "ENST00000414148.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 360,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000414148.6"
}
],
"gene_symbol": "CAPZA2",
"gene_hgnc_id": 1490,
"dbsnp": "rs2115933047",
"frequency_reference_population": 0.0000013826364,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138264,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42766934633255005,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.487,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.978,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006136.3",
"gene_symbol": "CAPZA2",
"hgnc_id": 1490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Asn42His"
}
],
"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
}