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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: 8-140539192-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140539192&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 140539192,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000220592.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2169+128T>C",
"hgvs_p": null,
"transcript": "NM_012154.5",
"protein_id": "NP_036286.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14595,
"mane_select": "ENST00000220592.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2169+128T>C",
"hgvs_p": null,
"transcript": "ENST00000220592.10",
"protein_id": "ENSP00000220592.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14595,
"mane_select": "NM_012154.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2169+128T>C",
"hgvs_p": null,
"transcript": "ENST00000519980.5",
"protein_id": "ENSP00000430176.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "n.*1754+128T>C",
"hgvs_p": null,
"transcript": "ENST00000523609.5",
"protein_id": "ENSP00000430164.1",
"transcript_support_level": 1,
"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": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2169+128T>C",
"hgvs_p": null,
"transcript": "NM_001164623.3",
"protein_id": "NP_001158095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "n.130+128T>C",
"hgvs_p": null,
"transcript": "ENST00000519347.1",
"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": 309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "n.429+128T>C",
"hgvs_p": null,
"transcript": "ENST00000520412.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2211+128T>C",
"hgvs_p": null,
"transcript": "XM_011516965.3",
"protein_id": "XP_011515267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": -4,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2211+128T>C",
"hgvs_p": null,
"transcript": "XM_047421695.1",
"protein_id": "XP_047277651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2031+128T>C",
"hgvs_p": null,
"transcript": "XM_011516968.3",
"protein_id": "XP_011515270.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2031+128T>C",
"hgvs_p": null,
"transcript": "XM_047421696.1",
"protein_id": "XP_047277652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.2031+128T>C",
"hgvs_p": null,
"transcript": "XM_047421697.1",
"protein_id": "XP_047277653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"dbsnp": "rs2977469",
"frequency_reference_population": 0.49343547,
"hom_count_reference_population": 166065,
"allele_count_reference_population": 663575,
"gnomad_exomes_af": 0.490895,
"gnomad_genomes_af": 0.513366,
"gnomad_exomes_ac": 585531,
"gnomad_genomes_ac": 78044,
"gnomad_exomes_homalt": 145844,
"gnomad_genomes_homalt": 20221,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.035,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000220592.10",
"gene_symbol": "AGO2",
"hgnc_id": 3263,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2169+128T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}