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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: 10-100523890-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100523890&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"stop_gained"
],
"gene_symbol": "NDUFB8",
"hgnc_id": 7703,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005004.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255339",
"hgnc_id": null,
"hgvs_c": "n.*112+87C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000557395.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 678,
"cdna_start": 528,
"cds_end": null,
"cds_length": 561,
"cds_start": 508,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005004.4",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299166.9",
"protein_coding": true,
"protein_id": "NP_004995.1",
"strand": false,
"transcript": "NM_005004.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 678,
"cdna_start": 528,
"cds_end": null,
"cds_length": 561,
"cds_start": 508,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000299166.9",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005004.4",
"protein_coding": true,
"protein_id": "ENSP00000299166.4",
"strand": false,
"transcript": "ENST00000299166.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557395.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255339",
"hgvs_c": "n.*112+87C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456832.1",
"strand": false,
"transcript": "ENST00000557395.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 761,
"cdna_start": 612,
"cds_end": null,
"cds_length": 591,
"cds_start": 538,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937696.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607755.1",
"strand": false,
"transcript": "ENST00000937696.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 689,
"cdna_start": 551,
"cds_end": null,
"cds_length": 582,
"cds_start": 529,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000941274.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611333.1",
"strand": false,
"transcript": "ENST00000941274.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 540,
"cds_end": null,
"cds_length": 561,
"cds_start": 508,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000718301.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520734.1",
"strand": false,
"transcript": "ENST00000718301.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 185,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 746,
"cdna_start": 580,
"cds_end": null,
"cds_length": 558,
"cds_start": 505,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937695.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607754.1",
"strand": false,
"transcript": "ENST00000937695.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 183,
"aa_ref": "R",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 522,
"cds_end": null,
"cds_length": 552,
"cds_start": 499,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894513.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564572.1",
"strand": false,
"transcript": "ENST00000894513.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 522,
"cds_end": null,
"cds_length": 549,
"cds_start": 496,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894512.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564571.1",
"strand": false,
"transcript": "ENST00000894512.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 158,
"aa_ref": "R",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 448,
"cds_end": null,
"cds_length": 477,
"cds_start": 424,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000941273.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611332.1",
"strand": false,
"transcript": "ENST00000941273.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 155,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 489,
"cds_end": null,
"cds_length": 468,
"cds_start": 415,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001284368.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271297.1",
"strand": false,
"transcript": "NM_001284368.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 155,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 566,
"cds_end": null,
"cds_length": 468,
"cds_start": 415,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370322.5",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359346.1",
"strand": false,
"transcript": "ENST00000370322.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 134,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 380,
"cds_end": null,
"cds_length": 405,
"cds_start": 352,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894511.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564570.1",
"strand": false,
"transcript": "ENST00000894511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": null,
"cds_end": null,
"cds_length": 519,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001284367.2",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.*199C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271296.1",
"strand": false,
"transcript": "NM_001284367.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 390,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000464651.1",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "n.240C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464651.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527595.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255339",
"hgvs_c": "n.312+3085C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455090.1",
"strand": false,
"transcript": "ENST00000527595.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528174.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255339",
"hgvs_c": "n.*110+3085C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456355.1",
"strand": false,
"transcript": "ENST00000528174.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529568.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255339",
"hgvs_c": "n.468+2509C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455597.1",
"strand": false,
"transcript": "ENST00000529568.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533549.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255339",
"hgvs_c": "n.*266+2509C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456407.1",
"strand": false,
"transcript": "ENST00000533549.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": null,
"cds_end": null,
"cds_length": 519,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370320.4",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "c.*199C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359344.4",
"strand": true,
"transcript": "ENST00000370320.4",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 608,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528425.5",
"gene_hgnc_id": 7703,
"gene_symbol": "NDUFB8",
"hgvs_c": "n.*516C>T",
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"protein_coding": false,
"protein_id": "ENSP00000434072.1",
"strand": true,
"transcript": "ENST00000528425.5",
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}
],
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"dbscsnv_ada_score": null,
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"effect": "stop_gained",
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.132,
"pos": 100523890,
"ref": "G",
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
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}
]
}