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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: 1-113895426-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113895426&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113895426,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369569.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 739,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Leu545Pro",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 664,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Leu545Pro",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 545,
"aa_end": null,
"aa_length": 664,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1580T>C",
"hgvs_p": "p.Leu527Pro",
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 646,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1562T>C",
"hgvs_p": "p.Leu521Pro",
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 640,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1547T>C",
"hgvs_p": "p.Leu516Pro",
"transcript": "NM_001438375.1",
"protein_id": "NP_001425304.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 635,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Leu452Pro",
"transcript": "NM_001308312.2",
"protein_id": "NP_001295241.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 571,
"cds_start": 1355,
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"cdna_start": 1437,
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"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Leu452Pro",
"transcript": "NM_001438376.1",
"protein_id": "NP_001425305.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 571,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Leu452Pro",
"transcript": "ENST00000369567.6",
"protein_id": "ENSP00000358580.1",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 571,
"cds_start": 1355,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Leu452Pro",
"transcript": "ENST00000432415.6",
"protein_id": "ENSP00000393622.2",
"transcript_support_level": 3,
"aa_start": 452,
"aa_end": null,
"aa_length": 571,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1322T>C",
"hgvs_p": "p.Leu441Pro",
"transcript": "NM_001438377.1",
"protein_id": "NP_001425306.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 560,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1485,
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"cdna_length": 2717,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Leu423Pro",
"transcript": "NM_001438378.1",
"protein_id": "NP_001425307.1",
"transcript_support_level": null,
"aa_start": 423,
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"cdna_start": 1431,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Leu348Pro",
"transcript": "NM_001438379.1",
"protein_id": "NP_001425308.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 467,
"cds_start": 1043,
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"cdna_start": 1125,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Leu414Pro",
"transcript": "XM_047439008.1",
"protein_id": "XP_047294964.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 533,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Leu295Pro",
"transcript": "XM_047439078.1",
"protein_id": "XP_047295034.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 414,
"cds_start": 884,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6532265543937683,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.598,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.424,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369569.6",
"gene_symbol": "AP4B1",
"hgnc_id": 572,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1859T>C",
"hgvs_p": "p.Leu620Pro"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419536.1",
"gene_symbol": "AP4B1-AS1",
"hgnc_id": 44114,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.247-2442A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia 47,Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Inborn genetic diseases|not specified|Hereditary spastic paraplegia 47",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}