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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: 4-140529879-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=140529879&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 140529879,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_153702.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "NM_153702.4",
"protein_id": "NP_714913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153702.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000323570.8",
"protein_id": "ENSP00000326342.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323570.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000899909.1",
"protein_id": "ENSP00000569968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000954139.1",
"protein_id": "ENSP00000624198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000899906.1",
"protein_id": "ENSP00000569965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000899908.1",
"protein_id": "ENSP00000569967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000917822.1",
"protein_id": "ENSP00000587881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000917823.1",
"protein_id": "ENSP00000587882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000917824.1",
"protein_id": "ENSP00000587883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917824.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000954137.1",
"protein_id": "ENSP00000624196.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954137.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000954138.1",
"protein_id": "ENSP00000624197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
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"cds_length": 654,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954138.1"
},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
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"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000899907.1",
"protein_id": "ENSP00000569966.1",
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"aa_start": null,
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"aa_length": 205,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899907.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
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"transcript": "ENST00000502397.5",
"protein_id": "ENSP00000422582.1",
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"biotype": "protein_coding",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ELMOD2",
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"hgvs_c": "c.-61+2385G>A",
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"transcript": "ENST00000513606.1",
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"feature": "ENST00000513606.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.207+2385G>A",
"hgvs_p": null,
"transcript": "XM_005262885.4",
"protein_id": "XP_005262942.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005262885.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
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"hgvs_c": "c.207+2385G>A",
"hgvs_p": null,
"transcript": "XM_011531818.3",
"protein_id": "XP_011530120.1",
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"biotype": "protein_coding",
"feature": "XM_011531818.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "XM_011531819.3",
"protein_id": "XP_011530121.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011531819.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null,
"transcript": "XM_047449980.1",
"protein_id": "XP_047305936.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.207+2385G>A",
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"transcript": "XM_047449981.1",
"protein_id": "XP_047305937.1",
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"biotype": "protein_coding",
"feature": "XM_047449981.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.630+2385G>A",
"hgvs_p": null,
"transcript": "XR_001741193.2",
"protein_id": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741193.2"
}
],
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"dbsnp": "rs2036020",
"frequency_reference_population": 0.32302395,
"hom_count_reference_population": 8286,
"allele_count_reference_population": 49057,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.323024,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 49057,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8286,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.539,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_153702.4",
"gene_symbol": "ELMOD2",
"hgnc_id": 28111,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.171+2385G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}