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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: 18-34875265-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34875265&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DTNA",
"hgnc_id": 3057,
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Ser590Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001386788.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "18",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Left ventricular noncompaction 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.33000001311302185,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 770,
"aa_ref": "S",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6572,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001386795.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Ser590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444659.6",
"protein_coding": true,
"protein_id": "NP_001373724.1",
"strand": true,
"transcript": "NM_001386795.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 770,
"aa_ref": "S",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6572,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000444659.6",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Ser590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386795.1",
"protein_coding": true,
"protein_id": "ENSP00000405819.2",
"strand": true,
"transcript": "ENST00000444659.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 724,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000598334.5",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Ser503Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470152.1",
"strand": true,
"transcript": "ENST00000598334.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 690,
"aa_ref": "S",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6490,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1530,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000399121.9",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1530C>T",
"hgvs_p": "p.Ser510Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382072.5",
"strand": true,
"transcript": "ENST00000399121.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000598142.5",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470716.1",
"strand": true,
"transcript": "ENST00000598142.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6016,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000595022.5",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Ser503Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473078.1",
"strand": true,
"transcript": "ENST00000595022.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1176,
"cds_start": 633,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000591182.5",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ser211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467720.1",
"strand": true,
"transcript": "ENST00000591182.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 770,
"aa_ref": "S",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001386788.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Ser590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373717.1",
"strand": true,
"transcript": "NM_001386788.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 770,
"aa_ref": "S",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000679796.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Ser590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506659.1",
"strand": true,
"transcript": "ENST00000679796.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3682,
"cdna_start": 2008,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000970105.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640164.1",
"strand": true,
"transcript": "ENST00000970105.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 743,
"aa_ref": "S",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001390.5",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Ser563Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381.2",
"strand": true,
"transcript": "NM_001390.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 743,
"aa_ref": "S",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000399113.7",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Ser563Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382064.3",
"strand": true,
"transcript": "ENST00000399113.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 724,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001198938.2",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Ser503Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185867.1",
"strand": true,
"transcript": "NM_001198938.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 724,
"aa_ref": "S",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386753.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Ser503Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373682.1",
"strand": true,
"transcript": "NM_001386753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6581,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001386754.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373683.1",
"strand": true,
"transcript": "NM_001386754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001386755.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373684.1",
"strand": true,
"transcript": "NM_001386755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001386756.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373685.1",
"strand": true,
"transcript": "NM_001386756.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001386757.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373686.1",
"strand": true,
"transcript": "NM_001386757.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6401,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001386758.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373687.1",
"strand": true,
"transcript": "NM_001386758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001386759.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373688.1",
"strand": true,
"transcript": "NM_001386759.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000680822.1",
"gene_hgnc_id": 3057,
"gene_symbol": "DTNA",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Ser533Ser",
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