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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: X-111312782-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111312782&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111312782,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000636035.2",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "NM_001195553.2",
"protein_id": "NP_001182482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": "ENST00000636035.2",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "ENST00000636035.2",
"protein_id": "ENSP00000490614.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": "NM_001195553.2",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.1112-46T>C",
"hgvs_p": null,
"transcript": "ENST00000358070.10",
"protein_id": "ENSP00000350776.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "ENST00000356220.8",
"protein_id": "ENSP00000348553.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "ENST00000637453.1",
"protein_id": "ENSP00000490357.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2275,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "ENST00000635795.1",
"protein_id": "ENSP00000489635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": -4,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.932-46T>C",
"hgvs_p": null,
"transcript": "ENST00000637570.1",
"protein_id": "ENSP00000490878.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6162,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.932-46T>C",
"hgvs_p": null,
"transcript": "ENST00000488120.2",
"protein_id": "ENSP00000419861.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.1175-46T>C",
"hgvs_p": null,
"transcript": "NM_000555.3",
"protein_id": "NP_000546.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9406,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.1127-46T>C",
"hgvs_p": null,
"transcript": "ENST00000496551.2",
"protein_id": "ENSP00000490448.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1320,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "NM_001369370.1",
"protein_id": "NP_001356299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "DCX",
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"hgvs_c": "c.947-46T>C",
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"transcript": "NM_001369371.1",
"protein_id": "NP_001356300.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-46T>C",
"hgvs_p": null,
"transcript": "NM_178152.3",
"protein_id": "NP_835365.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 365,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.932-46T>C",
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"transcript": "NM_001369372.1",
"protein_id": "NP_001356301.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"gene_symbol": "DCX",
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"hgvs_c": "c.932-46T>C",
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"transcript": "NM_178151.3",
"protein_id": "NP_835364.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "DCX",
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"hgvs_c": "c.932-46T>C",
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"transcript": "NM_178153.3",
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},
{
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],
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"gene_symbol": "DCX",
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"hgvs_c": "c.947-11039T>C",
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"transcript": "NM_001410715.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.947-11039T>C",
"hgvs_p": null,
"transcript": "ENST00000680476.1",
"protein_id": "ENSP00000505501.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "DCX",
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"hgvs_c": "c.932-11039T>C",
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"transcript": "NM_001369373.1",
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},
{
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],
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"gene_symbol": "DCX",
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"transcript": "NM_001369374.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.932-11039T>C",
"hgvs_p": null,
"transcript": "ENST00000371993.7",
"protein_id": "ENSP00000361061.3",
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}
],
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"dbsnp": "rs113181679",
"frequency_reference_population": 0.02051498,
"hom_count_reference_population": 7104,
"allele_count_reference_population": 23247,
"gnomad_exomes_af": 0.0213064,
"gnomad_genomes_af": 0.0132975,
"gnomad_exomes_ac": 21758,
"gnomad_genomes_ac": 1489,
"gnomad_exomes_homalt": 220,
"gnomad_genomes_homalt": 20,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.075,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000636035.2",
"gene_symbol": "DCX",
"hgnc_id": 2714,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.947-46T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}