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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: 5-112844006-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112844006&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112844006,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000257430.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "NM_000038.6",
"protein_id": "NP_000029.2",
"transcript_support_level": null,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8471,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "ENST00000257430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "ENST00000257430.9",
"protein_id": "ENSP00000257430.4",
"transcript_support_level": 5,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8471,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "NM_000038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "ENST00000508376.6",
"protein_id": "ENSP00000427089.2",
"transcript_support_level": 1,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8569,
"cdna_end": null,
"cdna_length": 10619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258864",
"gene_hgnc_id": null,
"hgvs_c": "n.229-12643G>C",
"hgvs_p": null,
"transcript": "ENST00000520401.1",
"protein_id": "ENSP00000454861.1",
"transcript_support_level": 3,
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8496G>C",
"hgvs_p": "p.Gln2832His",
"transcript": "NM_001407446.1",
"protein_id": "NP_001394375.1",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 2871,
"cds_start": 8496,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 8716,
"cdna_end": null,
"cdna_length": 10949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8466G>C",
"hgvs_p": "p.Gln2822His",
"transcript": "NM_001354896.2",
"protein_id": "NP_001341825.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8466,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8525,
"cdna_end": null,
"cdna_length": 10758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8466G>C",
"hgvs_p": "p.Gln2822His",
"transcript": "NM_001407447.1",
"protein_id": "NP_001394376.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8466,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8869,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8466G>C",
"hgvs_p": "p.Gln2822His",
"transcript": "NM_001407448.1",
"protein_id": "NP_001394377.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8466,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8636,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8466G>C",
"hgvs_p": "p.Gln2822His",
"transcript": "NM_001407449.1",
"protein_id": "NP_001394378.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8466,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8633,
"cdna_end": null,
"cdna_length": 10866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8466G>C",
"hgvs_p": "p.Gln2822His",
"transcript": "ENST00000504915.3",
"protein_id": "ENSP00000473355.2",
"transcript_support_level": 5,
"aa_start": 2822,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8466,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8522,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8442G>C",
"hgvs_p": "p.Gln2814His",
"transcript": "NM_001354897.2",
"protein_id": "NP_001341826.1",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 2853,
"cds_start": 8442,
"cds_end": null,
"cds_length": 8562,
"cdna_start": 8662,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "NM_001127510.3",
"protein_id": "NP_001120982.1",
"transcript_support_level": null,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8579,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "NM_001354895.2",
"protein_id": "NP_001341824.1",
"transcript_support_level": null,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8815,
"cdna_end": null,
"cdna_length": 11048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "NM_001407450.1",
"protein_id": "NP_001394379.1",
"transcript_support_level": null,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
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"cdna_start": 8582,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "ENST00000509732.6",
"protein_id": "ENSP00000426541.2",
"transcript_support_level": 4,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8562,
"cdna_end": null,
"cdna_length": 10616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8412G>C",
"hgvs_p": "p.Gln2804His",
"transcript": "ENST00000512211.7",
"protein_id": "ENSP00000423828.3",
"transcript_support_level": 2,
"aa_start": 2804,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8412,
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"cdna_start": 8763,
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"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8391G>C",
"hgvs_p": "p.Gln2797His",
"transcript": "NM_001407451.1",
"protein_id": "NP_001394380.1",
"transcript_support_level": null,
"aa_start": 2797,
"aa_end": null,
"aa_length": 2836,
"cds_start": 8391,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 8480,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8382G>C",
"hgvs_p": "p.Gln2794His",
"transcript": "NM_001407452.1",
"protein_id": "NP_001394381.1",
"transcript_support_level": null,
"aa_start": 2794,
"aa_end": null,
"aa_length": 2833,
"cds_start": 8382,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 8785,
"cdna_end": null,
"cdna_length": 11018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8358G>C",
"hgvs_p": "p.Gln2786His",
"transcript": "NM_001127511.3",
"protein_id": "NP_001120983.2",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
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"cds_start": 8358,
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"cdna_start": 8578,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8358G>C",
"hgvs_p": "p.Gln2786His",
"transcript": "ENST00000507379.6",
"protein_id": "ENSP00000423224.2",
"transcript_support_level": 2,
"aa_start": 2786,
"aa_end": null,
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"cds_start": 8358,
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"cdna_start": 8554,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8337G>C",
"hgvs_p": "p.Gln2779His",
"transcript": "NM_001354898.2",
"protein_id": "NP_001341827.1",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 2818,
"cds_start": 8337,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 8426,
"cdna_end": null,
"cdna_length": 10659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8328G>C",
"hgvs_p": "p.Gln2776His",
"transcript": "NM_001354899.2",
"protein_id": "NP_001341828.1",
"transcript_support_level": null,
"aa_start": 2776,
"aa_end": null,
"aa_length": 2815,
"cds_start": 8328,
"cds_end": null,
"cds_length": 8448,
"cdna_start": 8387,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4858291745185852,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.5,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257430.9",
"gene_symbol": "APC",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
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"hgvs_p": "p.Gln2804His"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000520401.1",
"gene_symbol": "ENSG00000258864",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229-12643G>C",
"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
}