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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: 17-41755075-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41755075&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41755075,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "NM_002230.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*669C>T",
"hgvs_p": null,
"transcript": "NM_002230.4",
"protein_id": "NP_002221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000393931.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*669C>T",
"hgvs_p": null,
"transcript": "ENST00000393931.8",
"protein_id": "ENSP00000377508.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_002230.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "ENST00000310706.9",
"protein_id": "ENSP00000311113.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*669C>T",
"hgvs_p": null,
"transcript": "NM_001352773.2",
"protein_id": "NP_001339702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "NM_001352774.2",
"protein_id": "NP_001339703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "NM_001352775.2",
"protein_id": "NP_001339704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "NM_001352776.2",
"protein_id": "NP_001339705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "NM_001352777.2",
"protein_id": "NP_001339706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "NM_021991.4",
"protein_id": "NP_068831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "ENST00000393930.5",
"protein_id": "ENSP00000377507.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_047435934.1",
"protein_id": "XP_047291890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": -4,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_c": "c.*669C>T",
"hgvs_p": null,
"transcript": "XM_047435935.1",
"protein_id": "XP_047291891.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": -4,
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"cds_length": 2289,
"cdna_start": null,
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"cdna_length": 3907,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_047435937.1",
"protein_id": "XP_047291893.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_c": "c.*372C>T",
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"transcript": "XM_006721874.4",
"protein_id": "XP_006721937.1",
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"feature": null
},
{
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"strand": false,
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"3_prime_UTR_variant"
],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_c": "c.*372C>T",
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"transcript": "XM_006721875.2",
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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
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_011524758.2",
"protein_id": "XP_011523060.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_017024590.2",
"protein_id": "XP_016880079.1",
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"cdna_start": null,
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"cdna_length": 3189,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_047435938.1",
"protein_id": "XP_047291894.1",
"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
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"transcript": "XM_047435939.1",
"protein_id": "XP_047291895.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_c": "c.*372C>T",
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"transcript": "XM_047435940.1",
"protein_id": "XP_047291896.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_047435941.1",
"protein_id": "XP_047291897.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.*372C>T",
"hgvs_p": null,
"transcript": "XM_047435942.1",
"protein_id": "XP_047291898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"dbsnp": "rs8074883",
"frequency_reference_population": 0.0072871456,
"hom_count_reference_population": 68,
"allele_count_reference_population": 2834,
"gnomad_exomes_af": 0.00228208,
"gnomad_genomes_af": 0.0150646,
"gnomad_exomes_ac": 540,
"gnomad_genomes_ac": 2294,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.103,
"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": -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": "NM_002230.4",
"gene_symbol": "JUP",
"hgnc_id": 6207,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*669C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 12,Naxos disease,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 12|Naxos disease|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}