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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: 17-41757421-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41757421&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41757421,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000393931.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_002230.4",
"protein_id": "NP_002221.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000393931.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "ENST00000393931.8",
"protein_id": "ENSP00000377508.3",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_002230.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "ENST00000310706.9",
"protein_id": "ENSP00000311113.5",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_001352773.2",
"protein_id": "NP_001339702.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_001352774.2",
"protein_id": "NP_001339703.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_001352775.2",
"protein_id": "NP_001339704.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_001352776.2",
"protein_id": "NP_001339705.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_001352777.2",
"protein_id": "NP_001339706.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "NM_021991.4",
"protein_id": "NP_068831.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "ENST00000393930.5",
"protein_id": "ENSP00000377507.1",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2089_2090delTG",
"hgvs_p": "p.Trp697fs",
"transcript": "XM_047435934.1",
"protein_id": "XP_047291890.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 762,
"cds_start": 2089,
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"cds_length": 2289,
"cdna_start": 2551,
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"cdna_length": 3588,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2089_2090delTG",
"hgvs_p": "p.Trp697fs",
"transcript": "XM_047435935.1",
"protein_id": "XP_047291891.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 762,
"cds_start": 2089,
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"cds_length": 2289,
"cdna_start": 2573,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2089_2090delTG",
"hgvs_p": "p.Trp697fs",
"transcript": "XM_047435937.1",
"protein_id": "XP_047291893.1",
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"aa_start": 697,
"aa_end": null,
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"cds_start": 2089,
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"cdna_start": 2501,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
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"hgvs_p": "p.Trp680fs",
"transcript": "XM_006721874.4",
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},
{
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],
"exon_rank": 12,
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"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_006721875.2",
"protein_id": "XP_006721938.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
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"cds_start": 2038,
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"cdna_start": 2256,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
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],
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"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_011524758.2",
"protein_id": "XP_011523060.1",
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},
{
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"strand": false,
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],
"exon_rank": 12,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_017024590.2",
"protein_id": "XP_016880079.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_047435938.1",
"protein_id": "XP_047291894.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
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"cds_start": 2038,
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"cdna_start": 2111,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "JUP",
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"hgvs_p": "p.Trp680fs",
"transcript": "XM_047435939.1",
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},
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],
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"gene_symbol": "JUP",
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"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_047435940.1",
"protein_id": "XP_047291896.1",
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},
{
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"strand": false,
"consequences": [
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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.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_047435941.1",
"protein_id": "XP_047291897.1",
"transcript_support_level": null,
"aa_start": 680,
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"cdna_start": 4043,
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"cdna_length": 5080,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs",
"transcript": "XM_047435942.1",
"protein_id": "XP_047291898.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 745,
"cds_start": 2038,
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"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"dbsnp": "rs113994177",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.06,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000393931.8",
"gene_symbol": "JUP",
"hgnc_id": 6207,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2038_2039delTG",
"hgvs_p": "p.Trp680fs"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 12,Naxos disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"phenotype_combined": "Naxos disease|not provided|Arrhythmogenic right ventricular dysplasia 12;Naxos disease|Arrhythmogenic right ventricular dysplasia 12",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}