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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: 2-170956457-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=170956457&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 170956457,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015530.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "NM_015530.5",
"protein_id": "NP_056345.3",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 452,
"cds_start": 721,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234160.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015530.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000234160.5",
"protein_id": "ENSP00000234160.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 452,
"cds_start": 721,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015530.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234160.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000871667.1",
"protein_id": "ENSP00000541726.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 458,
"cds_start": 721,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871667.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.718C>G",
"hgvs_p": "p.Pro240Ala",
"transcript": "ENST00000972174.1",
"protein_id": "ENSP00000642233.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 451,
"cds_start": 718,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972174.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Pro239Ala",
"transcript": "ENST00000871663.1",
"protein_id": "ENSP00000541722.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 450,
"cds_start": 715,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871663.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000972176.1",
"protein_id": "ENSP00000642235.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 448,
"cds_start": 721,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972176.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.664C>G",
"hgvs_p": "p.Pro222Ala",
"transcript": "ENST00000871669.1",
"protein_id": "ENSP00000541728.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 433,
"cds_start": 664,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871669.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.634C>G",
"hgvs_p": "p.Pro212Ala",
"transcript": "ENST00000871668.1",
"protein_id": "ENSP00000541727.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 423,
"cds_start": 634,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871668.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.634C>G",
"hgvs_p": "p.Pro212Ala",
"transcript": "ENST00000917130.1",
"protein_id": "ENSP00000587189.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 423,
"cds_start": 634,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917130.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000972175.1",
"protein_id": "ENSP00000642234.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 423,
"cds_start": 721,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972175.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000871664.1",
"protein_id": "ENSP00000541723.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 419,
"cds_start": 721,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871664.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala",
"transcript": "ENST00000871665.1",
"protein_id": "ENSP00000541724.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 387,
"cds_start": 721,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871665.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.517C>G",
"hgvs_p": "p.Pro173Ala",
"transcript": "NM_001201428.2",
"protein_id": "NP_001188357.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 384,
"cds_start": 517,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201428.2"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "c.662-22C>G",
"hgvs_p": null,
"transcript": "ENST00000871666.1",
"protein_id": "ENSP00000541725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "n.*753C>G",
"hgvs_p": null,
"transcript": "ENST00000442798.5",
"protein_id": "ENSP00000399889.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442798.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "n.755C>G",
"hgvs_p": null,
"transcript": "ENST00000471559.5",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471559.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "n.987C>G",
"hgvs_p": null,
"transcript": "ENST00000486498.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "n.*753C>G",
"hgvs_p": null,
"transcript": "ENST00000442798.5",
"protein_id": "ENSP00000399889.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442798.5"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"hgvs_c": "n.654+4999C>G",
"hgvs_p": null,
"transcript": "ENST00000493692.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493692.5"
}
],
"gene_symbol": "GORASP2",
"gene_hgnc_id": 17500,
"dbsnp": "rs544443219",
"frequency_reference_population": 0.000055838194,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000568534,
"gnomad_genomes_af": 0.0000460811,
"gnomad_exomes_ac": 83,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07299381494522095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.0586,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.869,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015530.5",
"gene_symbol": "GORASP2",
"hgnc_id": 17500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Pro241Ala"
}
],
"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
}