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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: 9-18745136-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=18745136&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 18745136,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000380548.9",
"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": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2007-8162G>A",
"hgvs_p": null,
"transcript": "NM_001040272.6",
"protein_id": "NP_001035362.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1762,
"cds_start": -4,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7771,
"mane_select": "ENST00000380548.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2007-8162G>A",
"hgvs_p": null,
"transcript": "ENST00000380548.9",
"protein_id": "ENSP00000369921.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1762,
"cds_start": -4,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7771,
"mane_select": "NM_001040272.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2151-8162G>A",
"hgvs_p": null,
"transcript": "ENST00000680146.1",
"protein_id": "ENSP00000505591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1810,
"cds_start": -4,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "n.539-8162G>A",
"hgvs_p": null,
"transcript": "ENST00000380559.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2205-8162G>A",
"hgvs_p": null,
"transcript": "XM_011518063.3",
"protein_id": "XP_011516365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1828,
"cds_start": -4,
"cds_end": null,
"cds_length": 5487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2163-8162G>A",
"hgvs_p": null,
"transcript": "XM_017015310.2",
"protein_id": "XP_016870799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1814,
"cds_start": -4,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2160-8162G>A",
"hgvs_p": null,
"transcript": "XM_011518064.4",
"protein_id": "XP_011516366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1813,
"cds_start": -4,
"cds_end": null,
"cds_length": 5442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2154-8162G>A",
"hgvs_p": null,
"transcript": "XM_017015311.2",
"protein_id": "XP_016870800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1811,
"cds_start": -4,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2127-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424072.1",
"protein_id": "XP_047280028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1802,
"cds_start": -4,
"cds_end": null,
"cds_length": 5409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2109-8162G>A",
"hgvs_p": null,
"transcript": "XM_017015312.3",
"protein_id": "XP_016870801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1796,
"cds_start": -4,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.1956-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424073.1",
"protein_id": "XP_047280029.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 5238,
"cdna_start": null,
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"cdna_length": 7720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.1557-8162G>A",
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"transcript": "XM_017015313.1",
"protein_id": "XP_016870802.1",
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"aa_start": null,
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"aa_length": 1612,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
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"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.1557-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424074.1",
"protein_id": "XP_047280030.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.1557-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424076.1",
"protein_id": "XP_047280032.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2205-8162G>A",
"hgvs_p": null,
"transcript": "XM_017015314.2",
"protein_id": "XP_016870803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2154-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424077.1",
"protein_id": "XP_047280033.1",
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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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.2007-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424078.1",
"protein_id": "XP_047280034.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.1956-8162G>A",
"hgvs_p": null,
"transcript": "XM_047424079.1",
"protein_id": "XP_047280035.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.903-8162G>A",
"hgvs_p": null,
"transcript": "XM_011518067.1",
"protein_id": "XP_011516369.1",
"transcript_support_level": null,
"aa_start": null,
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"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
}
],
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"dbsnp": "rs541686",
"frequency_reference_population": 0.7877973,
"hom_count_reference_population": 47352,
"allele_count_reference_population": 119783,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.787797,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 119783,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 47352,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"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": "ENST00000380548.9",
"gene_symbol": "ADAMTSL1",
"hgnc_id": 14632,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2007-8162G>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
}