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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: 2-43877786-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43877786&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43877786,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022437.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1895T>C",
"hgvs_p": "p.Val632Ala",
"transcript": "NM_022437.3",
"protein_id": "NP_071882.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 673,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 7180,
"mane_select": "ENST00000272286.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022437.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1895T>C",
"hgvs_p": "p.Val632Ala",
"transcript": "ENST00000272286.4",
"protein_id": "ENSP00000272286.2",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 673,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 7180,
"mane_select": "NM_022437.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272286.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1910T>C",
"hgvs_p": "p.Val637Ala",
"transcript": "ENST00000881895.1",
"protein_id": "ENSP00000551954.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 678,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881895.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1907T>C",
"hgvs_p": "p.Val636Ala",
"transcript": "ENST00000881900.1",
"protein_id": "ENSP00000551959.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 677,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881900.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Val631Ala",
"transcript": "NM_001357321.2",
"protein_id": "NP_001344250.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 672,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357321.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Val631Ala",
"transcript": "ENST00000881893.1",
"protein_id": "ENSP00000551952.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 672,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881893.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1883T>C",
"hgvs_p": "p.Val628Ala",
"transcript": "ENST00000881902.1",
"protein_id": "ENSP00000551961.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 669,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881902.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1874T>C",
"hgvs_p": "p.Val625Ala",
"transcript": "ENST00000881896.1",
"protein_id": "ENSP00000551955.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 666,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881896.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1871T>C",
"hgvs_p": "p.Val624Ala",
"transcript": "ENST00000881899.1",
"protein_id": "ENSP00000551958.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 665,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881899.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1811T>C",
"hgvs_p": "p.Val604Ala",
"transcript": "ENST00000881892.1",
"protein_id": "ENSP00000551951.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 645,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881892.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Val598Ala",
"transcript": "ENST00000881897.1",
"protein_id": "ENSP00000551956.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881897.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1523T>C",
"hgvs_p": "p.Val508Ala",
"transcript": "ENST00000881901.1",
"protein_id": "ENSP00000551960.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 549,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881901.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1520T>C",
"hgvs_p": "p.Val507Ala",
"transcript": "ENST00000881894.1",
"protein_id": "ENSP00000551953.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 548,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881894.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Val418Ala",
"transcript": "ENST00000881898.1",
"protein_id": "ENSP00000551957.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 459,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881898.1"
}
],
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"dbsnp": "rs6544718",
"frequency_reference_population": 0.80363464,
"hom_count_reference_population": 524666,
"allele_count_reference_population": 1297076,
"gnomad_exomes_af": 0.798386,
"gnomad_genomes_af": 0.854072,
"gnomad_exomes_ac": 1167146,
"gnomad_genomes_ac": 129930,
"gnomad_exomes_homalt": 468759,
"gnomad_genomes_homalt": 55907,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.582935156984604e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0547,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.176,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_022437.3",
"gene_symbol": "ABCG8",
"hgnc_id": 13887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1895T>C",
"hgvs_p": "p.Val632Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,Sitosterolemia 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "Sitosterolemia 1|not provided|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}