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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: 17-58521809-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58521809&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEPTIN4",
"hgnc_id": 9165,
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001368771.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SEPTIN4-AS1",
"hgnc_id": 51345,
"hgvs_c": "n.143+1832C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000580589.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.2107,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3368871212005615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001368771.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000672673.2",
"protein_coding": true,
"protein_id": "NP_001355700.1",
"strand": false,
"transcript": "NM_001368771.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000672673.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001368771.2",
"protein_coding": true,
"protein_id": "ENSP00000500383.1",
"strand": false,
"transcript": "ENST00000672673.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1437,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000317268.7",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321674.3",
"strand": false,
"transcript": "ENST00000317268.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1380,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000317256.10",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321071.6",
"strand": false,
"transcript": "ENST00000317256.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 274,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": null,
"cds_end": null,
"cds_length": 825,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426861.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.*73G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402348.1",
"strand": false,
"transcript": "ENST00000426861.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000580809.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.*73G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464382.1",
"strand": false,
"transcript": "ENST00000580809.5",
"transcript_support_level": 1
},
{
"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": 1731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000584488.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "n.981G>A",
"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": "ENST00000584488.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1482,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001256782.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243711.1",
"strand": false,
"transcript": "NM_001256782.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1482,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000457347.6",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402000.2",
"strand": false,
"transcript": "ENST00000457347.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1482,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672699.1",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500355.1",
"strand": false,
"transcript": "ENST00000672699.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1437,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004574.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004565.1",
"strand": false,
"transcript": "NM_004574.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1416,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001368772.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355701.1",
"strand": false,
"transcript": "NM_001368772.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 470,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1413,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001198713.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185642.1",
"strand": false,
"transcript": "NM_001198713.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1413,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000412945.7",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414779.3",
"strand": false,
"transcript": "ENST00000412945.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1380,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_080416.4",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_536341.1",
"strand": false,
"transcript": "NM_080416.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1380,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393086.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376801.1",
"strand": false,
"transcript": "ENST00000393086.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 379,
"aa_ref": "R",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1140,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363803.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350732.1",
"strand": false,
"transcript": "NM_001363803.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 379,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1140,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000580844.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462727.1",
"strand": false,
"transcript": "ENST00000580844.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 332,
"aa_ref": "R",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 650,
"cds_end": null,
"cds_length": 999,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579371.5",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464373.1",
"strand": false,
"transcript": "ENST00000579371.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 951,
"cds_end": null,
"cds_length": 996,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001256822.2",
"gene_hgnc_id": 9165,
"gene_symbol": "SEPTIN4",
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243751.1",
"strand": false,
"transcript": "NM_001256822.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 938,
"cds_end": null,
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