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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: 11-93730151-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=93730151&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "CEP295",
"hgnc_id": 29366,
"hgvs_c": "c.7767+3G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_033395.2",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "TAF1D",
"hgnc_id": 28759,
"hgvs_c": "n.*1300C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000323981.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 795,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2601,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8014,
"cdna_start": null,
"cds_end": null,
"cds_length": 7806,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033395.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7767+3G>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325212.11",
"protein_coding": true,
"protein_id": "NP_203753.1",
"strand": true,
"transcript": "NM_033395.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2601,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8014,
"cdna_start": null,
"cds_end": null,
"cds_length": 7806,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000325212.11",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7767+3G>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033395.2",
"protein_coding": true,
"protein_id": "ENSP00000316681.6",
"strand": true,
"transcript": "ENST00000325212.11",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2645,
"aa_ref": "V",
"aa_start": 2604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8138,
"cdna_start": 7931,
"cds_end": null,
"cds_length": 7938,
"cds_start": 7812,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011543047.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7812G>A",
"hgvs_p": "p.Val2604Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541349.1",
"strand": true,
"transcript": "XM_011543047.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2644,
"aa_ref": "V",
"aa_start": 2603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8135,
"cdna_start": 7928,
"cds_end": null,
"cds_length": 7935,
"cds_start": 7809,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017018470.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7809G>A",
"hgvs_p": "p.Val2603Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873959.1",
"strand": true,
"transcript": "XM_017018470.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2632,
"aa_ref": "V",
"aa_start": 2591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8099,
"cdna_start": 7892,
"cds_end": null,
"cds_length": 7899,
"cds_start": 7773,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011543048.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7773G>A",
"hgvs_p": "p.Val2591Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541350.1",
"strand": true,
"transcript": "XM_011543048.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "V",
"aa_start": 2590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8096,
"cdna_start": 7889,
"cds_end": null,
"cds_length": 7896,
"cds_start": 7770,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047427788.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7770G>A",
"hgvs_p": "p.Val2590Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283744.1",
"strand": true,
"transcript": "XM_047427788.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2597,
"aa_ref": "V",
"aa_start": 2556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7994,
"cdna_start": 7787,
"cds_end": null,
"cds_length": 7794,
"cds_start": 7668,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_011543049.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7668G>A",
"hgvs_p": "p.Val2556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541351.1",
"strand": true,
"transcript": "XM_011543049.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2596,
"aa_ref": "V",
"aa_start": 2555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": 7784,
"cds_end": null,
"cds_length": 7791,
"cds_start": 7665,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017018471.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7665G>A",
"hgvs_p": "p.Val2555Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873960.1",
"strand": true,
"transcript": "XM_017018471.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2584,
"aa_ref": "V",
"aa_start": 2543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7955,
"cdna_start": 7748,
"cds_end": null,
"cds_length": 7755,
"cds_start": 7629,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427789.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7629G>A",
"hgvs_p": "p.Val2543Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283745.1",
"strand": true,
"transcript": "XM_047427789.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2583,
"aa_ref": "V",
"aa_start": 2542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7952,
"cdna_start": 7745,
"cds_end": null,
"cds_length": 7752,
"cds_start": 7626,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427790.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7626G>A",
"hgvs_p": "p.Val2542Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283746.1",
"strand": true,
"transcript": "XM_047427790.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "V",
"aa_start": 2371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7516,
"cdna_start": 7309,
"cds_end": null,
"cds_length": 7239,
"cds_start": 7113,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017018474.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7113G>A",
"hgvs_p": "p.Val2371Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873963.1",
"strand": true,
"transcript": "XM_017018474.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "V",
"aa_start": 2371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7512,
"cdna_start": 7305,
"cds_end": null,
"cds_length": 7239,
"cds_start": 7113,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047427794.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7113G>A",
"hgvs_p": "p.Val2371Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283750.1",
"strand": true,
"transcript": "XM_047427794.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2133,
"aa_ref": "V",
"aa_start": 2092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": 6381,
"cds_end": null,
"cds_length": 6402,
"cds_start": 6276,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011543053.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.6276G>A",
"hgvs_p": "p.Val2092Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541355.1",
"strand": true,
"transcript": "XM_011543053.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2133,
"aa_ref": "V",
"aa_start": 2092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 6346,
"cds_end": null,
"cds_length": 6402,
"cds_start": 6276,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047427795.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.6276G>A",
"hgvs_p": "p.Val2092Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283751.1",
"strand": true,
"transcript": "XM_047427795.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": null,
"cds_end": null,
"cds_length": 2346,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531700.5",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.2307+3G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437323.1",
"strand": true,
"transcript": "ENST00000531700.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8056,
"cdna_start": null,
"cds_end": null,
"cds_length": 7848,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005274366.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7809+3G>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274423.1",
"strand": true,
"transcript": "XM_005274366.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2614,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8053,
"cdna_start": null,
"cds_end": null,
"cds_length": 7845,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005274367.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7806+3G>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274424.1",
"strand": true,
"transcript": "XM_005274367.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7912,
"cdna_start": null,
"cds_end": null,
"cds_length": 7704,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018472.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7665+3G>A",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873961.1",
"strand": true,
"transcript": "XM_017018472.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2566,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7909,
"cdna_start": null,
"cds_end": null,
"cds_length": 7701,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005274368.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7662+3G>A",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274425.1",
"strand": true,
"transcript": "XM_005274368.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2554,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7873,
"cdna_start": null,
"cds_end": null,
"cds_length": 7665,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427791.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7626+3G>A",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283747.1",
"strand": true,
"transcript": "XM_047427791.1",
"transcript_support_level": null
},
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