← Back to variant description
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: 10-97865695-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97865695&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97865695,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001010917.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly",
"transcript": "NM_001010917.3",
"protein_id": "NP_001010917.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 167,
"cds_start": 499,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370602.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010917.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly",
"transcript": "ENST00000370602.6",
"protein_id": "ENSP00000359634.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 167,
"cds_start": 499,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010917.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370602.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1839G>C",
"hgvs_p": "p.Pro613Pro",
"transcript": "NM_018058.7",
"protein_id": "NP_060528.3",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 661,
"cds_start": 1839,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370597.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018058.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1839G>C",
"hgvs_p": "p.Pro613Pro",
"transcript": "ENST00000370597.8",
"protein_id": "ENSP00000359629.3",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 661,
"cds_start": 1839,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018058.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370597.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "ENST00000413387.5",
"protein_id": "ENSP00000408445.1",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 524,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413387.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly",
"transcript": "ENST00000856898.1",
"protein_id": "ENSP00000526957.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 167,
"cds_start": 499,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856898.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly",
"transcript": "ENST00000962863.1",
"protein_id": "ENSP00000632922.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 167,
"cds_start": 499,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962863.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000856899.1",
"protein_id": "ENSP00000526958.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 125,
"cds_start": 373,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856899.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.346C>G",
"hgvs_p": "p.Arg116Gly",
"transcript": "ENST00000962864.1",
"protein_id": "ENSP00000632923.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 116,
"cds_start": 346,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962864.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GOLGA7B",
"gene_hgnc_id": 31668,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "ENST00000962865.1",
"protein_id": "ENSP00000632924.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 74,
"cds_start": 220,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962865.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1884G>C",
"hgvs_p": "p.Pro628Pro",
"transcript": "ENST00000856696.1",
"protein_id": "ENSP00000526755.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 676,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856696.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1857G>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000856695.1",
"protein_id": "ENSP00000526754.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 667,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856695.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1545G>C",
"hgvs_p": "p.Pro515Pro",
"transcript": "ENST00000962752.1",
"protein_id": "ENSP00000632811.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 563,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962752.1"
}
],
"gene_symbol": "GOLGA7B",
"gene_hgnc_id": 31668,
"dbsnp": "rs1193888972",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49849969148635864,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.2044,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.304,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010917.3",
"gene_symbol": "GOLGA7B",
"hgnc_id": 31668,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018058.7",
"gene_symbol": "CRTAC1",
"hgnc_id": 14882,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1839G>C",
"hgvs_p": "p.Pro613Pro"
}
],
"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
}