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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: 1-1085966-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1085966&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "C1orf159",
"hgnc_id": 26062,
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001330306.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 258244,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 198,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 522,
"cds_end": null,
"cds_length": 597,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_017891.5",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000421241.7",
"protein_coding": true,
"protein_id": "NP_060361.4",
"strand": false,
"transcript": "NM_017891.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 198,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 522,
"cds_end": null,
"cds_length": 597,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000421241.7",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017891.5",
"protein_coding": true,
"protein_id": "ENSP00000400736.2",
"strand": false,
"transcript": "ENST00000421241.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1143,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001330306.2",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317235.1",
"strand": false,
"transcript": "NM_001330306.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1143,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000379339.5",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368644.1",
"strand": false,
"transcript": "ENST00000379339.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363525.2",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350454.1",
"strand": false,
"transcript": "NM_001363525.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000379320.5",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368624.1",
"strand": false,
"transcript": "ENST00000379320.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000871970.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542029.1",
"strand": false,
"transcript": "ENST00000871970.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000871977.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542036.1",
"strand": false,
"transcript": "ENST00000871977.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000871978.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542037.1",
"strand": false,
"transcript": "ENST00000871978.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934530.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604589.1",
"strand": false,
"transcript": "ENST00000934530.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1035,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962843.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632902.1",
"strand": false,
"transcript": "ENST00000962843.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 641,
"cds_end": null,
"cds_length": 705,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000871971.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542030.1",
"strand": false,
"transcript": "ENST00000871971.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 830,
"cds_end": null,
"cds_length": 705,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000871980.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542039.1",
"strand": false,
"transcript": "ENST00000871980.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 537,
"cds_end": null,
"cds_length": 705,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962840.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632899.1",
"strand": false,
"transcript": "ENST00000962840.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 678,
"cds_end": null,
"cds_length": 705,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962842.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632901.1",
"strand": false,
"transcript": "ENST00000962842.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 232,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 537,
"cds_end": null,
"cds_length": 699,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000871974.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542033.1",
"strand": false,
"transcript": "ENST00000871974.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 232,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 729,
"cds_end": null,
"cds_length": 699,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000871975.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542034.1",
"strand": false,
"transcript": "ENST00000871975.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 232,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 546,
"cds_end": null,
"cds_length": 699,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934535.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604594.1",
"strand": false,
"transcript": "ENST00000934535.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 222,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": 528,
"cds_end": null,
"cds_length": 671,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434641.5",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390635.1",
"strand": false,
"transcript": "ENST00000434641.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 218,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 512,
"cds_end": null,
"cds_length": 657,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934532.1",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604591.1",
"strand": false,
"transcript": "ENST00000934532.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 198,
"aa_ref": "I",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 664,
"cds_end": null,
"cds_length": 597,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000379319.5",
"gene_hgnc_id": 26062,
"gene_symbol": "C1orf159",
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Ile119Ile",
"intron_rank": null,
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