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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: 12-50177110-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50177110&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LIMA1",
"hgnc_id": 24636,
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001113546.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.9854,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5772162079811096,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_016357.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Gln745Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341247.9",
"protein_coding": true,
"protein_id": "NP_057441.1",
"strand": false,
"transcript": "NM_016357.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000341247.9",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Gln745Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016357.5",
"protein_coding": true,
"protein_id": "ENSP00000340184.4",
"strand": false,
"transcript": "ENST00000341247.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000394943.7",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378400.3",
"strand": false,
"transcript": "ENST00000394943.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 600,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000552783.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.1757A>C",
"hgvs_p": "p.Gln586Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448779.1",
"strand": false,
"transcript": "ENST00000552783.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 598,
"aa_ref": "Q",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000552909.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.1751A>C",
"hgvs_p": "p.Gln584Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450087.1",
"strand": false,
"transcript": "ENST00000552909.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 457,
"aa_ref": "Q",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547825.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.1328A>C",
"hgvs_p": "p.Gln443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448706.1",
"strand": false,
"transcript": "ENST00000547825.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000552720.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "n.*1126A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448411.1",
"strand": false,
"transcript": "ENST00000552720.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000552720.5",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "n.*1126A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448411.1",
"strand": false,
"transcript": "ENST00000552720.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2330,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872660.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2330A>C",
"hgvs_p": "p.Gln777Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542719.1",
"strand": false,
"transcript": "ENST00000872660.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001113546.2",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107018.1",
"strand": false,
"transcript": "NM_001113546.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394886.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381815.1",
"strand": false,
"transcript": "NM_001394886.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872658.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542717.1",
"strand": false,
"transcript": "ENST00000872658.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872661.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542720.1",
"strand": false,
"transcript": "ENST00000872661.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 2649,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872662.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542721.1",
"strand": false,
"transcript": "ENST00000872662.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872663.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542722.1",
"strand": false,
"transcript": "ENST00000872663.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000872664.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542723.1",
"strand": false,
"transcript": "ENST00000872664.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872665.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2237A>C",
"hgvs_p": "p.Gln746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542724.1",
"strand": false,
"transcript": "ENST00000872665.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001394887.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Gln745Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381816.1",
"strand": false,
"transcript": "NM_001394887.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3832,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394888.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Gln745Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381817.1",
"strand": false,
"transcript": "NM_001394888.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394889.1",
"gene_hgnc_id": 24636,
"gene_symbol": "LIMA1",
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Gln745Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381818.1",
"strand": false,
"transcript": "NM_001394889.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "Q",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872659.1",
"gene_hgnc_id": 24636,
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