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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: 2-200921114-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200921114&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200921114,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000234296.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Leu391Leu",
"transcript": "NM_006190.5",
"protein_id": "NP_006181.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 577,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "ENST00000234296.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Leu391Leu",
"transcript": "ENST00000234296.7",
"protein_id": "ENSP00000234296.2",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 577,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "NM_006190.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.His335Asn",
"transcript": "XM_047444570.1",
"protein_id": "XP_047300526.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 339,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"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": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.943C>A",
"hgvs_p": "p.His315Asn",
"transcript": "XM_047444572.1",
"protein_id": "XP_047300528.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 319,
"cds_start": 943,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1233C>A",
"hgvs_p": "p.Leu411Leu",
"transcript": "XM_011511252.4",
"protein_id": "XP_011509554.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 597,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1233C>A",
"hgvs_p": "p.Leu411Leu",
"transcript": "XM_011511253.4",
"protein_id": "XP_011509555.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 597,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1233C>A",
"hgvs_p": "p.Leu411Leu",
"transcript": "XM_047444568.1",
"protein_id": "XP_047300524.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 597,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Leu391Leu",
"transcript": "XM_006712555.5",
"protein_id": "XP_006712618.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 577,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Leu391Leu",
"transcript": "XM_047444569.1",
"protein_id": "XP_047300525.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 577,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "n.260C>A",
"hgvs_p": null,
"transcript": "ENST00000464147.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "n.625C>A",
"hgvs_p": null,
"transcript": "ENST00000487853.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "n.1403C>A",
"hgvs_p": null,
"transcript": "NR_033915.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "n.1403C>A",
"hgvs_p": null,
"transcript": "XR_002959301.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"dbsnp": "rs2307362",
"frequency_reference_population": 0.0000027680014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.000002768,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.115,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000234296.7",
"gene_symbol": "ORC2",
"hgnc_id": 8488,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1173C>A",
"hgvs_p": "p.Leu391Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}