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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: 1-112667121-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=112667121&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CAPZA1",
"hgnc_id": 1488,
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_006135.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 206,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2371,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.033162593841552734,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 286,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 646,
"cds_end": null,
"cds_length": 861,
"cds_start": 633,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006135.3",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263168.4",
"protein_coding": true,
"protein_id": "NP_006126.1",
"strand": true,
"transcript": "NM_006135.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 286,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 646,
"cds_end": null,
"cds_length": 861,
"cds_start": 633,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000263168.4",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006135.3",
"protein_coding": true,
"protein_id": "ENSP00000263168.3",
"strand": true,
"transcript": "ENST00000263168.4",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 957,
"cds_start": 633,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904626.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574685.1",
"strand": true,
"transcript": "ENST00000904626.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 304,
"aa_ref": "D",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 698,
"cds_end": null,
"cds_length": 915,
"cds_start": 687,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000917728.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.687T>A",
"hgvs_p": "p.Asp229Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587787.1",
"strand": true,
"transcript": "ENST00000917728.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 265,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 656,
"cds_end": null,
"cds_length": 798,
"cds_start": 633,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904629.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574688.1",
"strand": true,
"transcript": "ENST00000904629.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 233,
"aa_ref": "D",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 487,
"cds_end": null,
"cds_length": 702,
"cds_start": 474,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000904628.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.474T>A",
"hgvs_p": "p.Asp158Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574687.1",
"strand": true,
"transcript": "ENST00000904628.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 226,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 681,
"cds_start": 453,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917726.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.453T>A",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587785.1",
"strand": true,
"transcript": "ENST00000917726.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 217,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 654,
"cds_start": 426,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917725.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.426T>A",
"hgvs_p": "p.Asp142Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587784.1",
"strand": true,
"transcript": "ENST00000917725.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 210,
"aa_ref": "D",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 431,
"cds_end": null,
"cds_length": 633,
"cds_start": 405,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967625.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.405T>A",
"hgvs_p": "p.Asp135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637684.1",
"strand": true,
"transcript": "ENST00000967625.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 169,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 305,
"cds_end": null,
"cds_length": 510,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917727.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.282T>A",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587786.1",
"strand": true,
"transcript": "ENST00000917727.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 646,
"cds_end": null,
"cds_length": 957,
"cds_start": 633,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017002424.3",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.633T>A",
"hgvs_p": "p.Asp211Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857913.1",
"strand": true,
"transcript": "XM_017002424.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 204,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": 615,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011542225.4",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.*65T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540527.1",
"strand": true,
"transcript": "XM_011542225.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904627.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "c.586-2422T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574686.1",
"strand": true,
"transcript": "ENST00000904627.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466066.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "n.499T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466066.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476820.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "n.202T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476820.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000476936.5",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "n.388T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476936.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498626.1",
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"hgvs_c": "n.*36T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000498626.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199731043",
"effect": "missense_variant",
"frequency_reference_population": 0.0001278793,
"gene_hgnc_id": 1488,
"gene_symbol": "CAPZA1",
"gnomad_exomes_ac": 194,
"gnomad_exomes_af": 0.000133011,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000787557,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.003,
"pos": 112667121,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.144,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006135.3"
}
]
}