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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: 5-137949134-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137949134&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM13B",
"hgnc_id": 1335,
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001385994.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.8853,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6573134660720825,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": 2481,
"cds_end": null,
"cds_length": 2814,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001385994.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000689681.1",
"protein_coding": true,
"protein_id": "NP_001372923.1",
"strand": false,
"transcript": "NM_001385994.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": 2481,
"cds_end": null,
"cds_length": 2814,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000689681.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385994.1",
"protein_coding": true,
"protein_id": "ENSP00000509788.1",
"strand": false,
"transcript": "ENST00000689681.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000033079.7",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000033079.3",
"strand": false,
"transcript": "ENST00000033079.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000420893.6",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388521.2",
"strand": false,
"transcript": "ENST00000420893.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1627,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000425075.6",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394669.2",
"strand": false,
"transcript": "ENST00000425075.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2814,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000956470.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626529.1",
"strand": false,
"transcript": "ENST00000956470.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5610,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001385921.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372850.1",
"strand": false,
"transcript": "NM_001385921.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_016603.4",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057687.2",
"strand": false,
"transcript": "NM_016603.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874971.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545030.1",
"strand": false,
"transcript": "ENST00000874971.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 915,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874972.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545031.1",
"strand": false,
"transcript": "ENST00000874972.1",
"transcript_support_level": null
},
{
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"aa_length": 915,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000921477.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591536.1",
"strand": false,
"transcript": "ENST00000921477.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 2702,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000956471.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626530.1",
"strand": false,
"transcript": "ENST00000956471.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874970.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1912C>T",
"hgvs_p": "p.Arg638Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545029.1",
"strand": false,
"transcript": "ENST00000874970.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5285,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001385868.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372797.1",
"strand": false,
"transcript": "NM_001385868.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 909,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5495,
"cdna_start": 2481,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001385980.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372909.1",
"strand": false,
"transcript": "NM_001385980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 887,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5429,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001101800.3",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001095270.1",
"strand": false,
"transcript": "NM_001101800.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 887,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 2205,
"cds_end": null,
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"cds_start": 1915,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001385867.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372796.1",
"strand": false,
"transcript": "NM_001385867.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 5213,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001385874.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372803.1",
"strand": false,
"transcript": "NM_001385874.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4690,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000956469.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626528.1",
"strand": false,
"transcript": "ENST00000956469.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 857,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2574,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001385870.1",
"gene_hgnc_id": 1335,
"gene_symbol": "FAM13B",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372799.1",
"strand": false,
"transcript": "NM_001385870.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 855,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2568,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001385991.1",
"gene_hgnc_id": 1335,
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