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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: 5-112843348-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112843348&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112843348,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000257430.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "NM_000038.6",
"protein_id": "NP_000029.2",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 7813,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "ENST00000257430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "ENST00000257430.9",
"protein_id": "ENSP00000257430.4",
"transcript_support_level": 5,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 7813,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "NM_000038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "ENST00000508376.6",
"protein_id": "ENSP00000427089.2",
"transcript_support_level": 1,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 7911,
"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.229-13301A>T",
"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": "K",
"aa_alt": "I",
"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.7838A>T",
"hgvs_p": "p.Lys2613Ile",
"transcript": "NM_001407446.1",
"protein_id": "NP_001394375.1",
"transcript_support_level": null,
"aa_start": 2613,
"aa_end": null,
"aa_length": 2871,
"cds_start": 7838,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 8058,
"cdna_end": null,
"cdna_length": 10949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7808A>T",
"hgvs_p": "p.Lys2603Ile",
"transcript": "NM_001354896.2",
"protein_id": "NP_001341825.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2861,
"cds_start": 7808,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 7867,
"cdna_end": null,
"cdna_length": 10758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7808A>T",
"hgvs_p": "p.Lys2603Ile",
"transcript": "NM_001407447.1",
"protein_id": "NP_001394376.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2861,
"cds_start": 7808,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8211,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7808A>T",
"hgvs_p": "p.Lys2603Ile",
"transcript": "NM_001407448.1",
"protein_id": "NP_001394377.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2861,
"cds_start": 7808,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 7978,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7808A>T",
"hgvs_p": "p.Lys2603Ile",
"transcript": "NM_001407449.1",
"protein_id": "NP_001394378.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2861,
"cds_start": 7808,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 7975,
"cdna_end": null,
"cdna_length": 10866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7808A>T",
"hgvs_p": "p.Lys2603Ile",
"transcript": "ENST00000504915.3",
"protein_id": "ENSP00000473355.2",
"transcript_support_level": 5,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2861,
"cds_start": 7808,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 7864,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7784A>T",
"hgvs_p": "p.Lys2595Ile",
"transcript": "NM_001354897.2",
"protein_id": "NP_001341826.1",
"transcript_support_level": null,
"aa_start": 2595,
"aa_end": null,
"aa_length": 2853,
"cds_start": 7784,
"cds_end": null,
"cds_length": 8562,
"cdna_start": 8004,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "NM_001127510.3",
"protein_id": "NP_001120982.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 7921,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "NM_001354895.2",
"protein_id": "NP_001341824.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8157,
"cdna_end": null,
"cdna_length": 11048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "NM_001407450.1",
"protein_id": "NP_001394379.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
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"cdna_start": 7924,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "ENST00000509732.6",
"protein_id": "ENSP00000426541.2",
"transcript_support_level": 4,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2843,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 7904,
"cdna_end": null,
"cdna_length": 10616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7754A>T",
"hgvs_p": "p.Lys2585Ile",
"transcript": "ENST00000512211.7",
"protein_id": "ENSP00000423828.3",
"transcript_support_level": 2,
"aa_start": 2585,
"aa_end": null,
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"cds_start": 7754,
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"cdna_start": 8105,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7733A>T",
"hgvs_p": "p.Lys2578Ile",
"transcript": "NM_001407451.1",
"protein_id": "NP_001394380.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 2836,
"cds_start": 7733,
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"cds_length": 8511,
"cdna_start": 7822,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7724A>T",
"hgvs_p": "p.Lys2575Ile",
"transcript": "NM_001407452.1",
"protein_id": "NP_001394381.1",
"transcript_support_level": null,
"aa_start": 2575,
"aa_end": null,
"aa_length": 2833,
"cds_start": 7724,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 8127,
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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": 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.7700A>T",
"hgvs_p": "p.Lys2567Ile",
"transcript": "NM_001127511.3",
"protein_id": "NP_001120983.2",
"transcript_support_level": null,
"aa_start": 2567,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7700A>T",
"hgvs_p": "p.Lys2567Ile",
"transcript": "ENST00000507379.6",
"protein_id": "ENSP00000423224.2",
"transcript_support_level": 2,
"aa_start": 2567,
"aa_end": null,
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"cds_start": 7700,
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"mane_select": null,
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"feature": null
},
{
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"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.7679A>T",
"hgvs_p": "p.Lys2560Ile",
"transcript": "NM_001354898.2",
"protein_id": "NP_001341827.1",
"transcript_support_level": null,
"aa_start": 2560,
"aa_end": null,
"aa_length": 2818,
"cds_start": 7679,
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"cds_length": 8457,
"cdna_start": 7768,
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"cdna_length": 10659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"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.7670A>T",
"hgvs_p": "p.Lys2557Ile",
"transcript": "NM_001354899.2",
"protein_id": "NP_001341828.1",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 2815,
"cds_start": 7670,
"cds_end": null,
"cds_length": 8448,
"cdna_start": 7729,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
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{
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}
],
"gene_symbol": "APC",
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"dbsnp": "rs876658884",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5114439129829407,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.441,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.713,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"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",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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"hgvs_p": "p.Lys2585Ile"
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{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000520401.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229-13301A>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}