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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: 17-54912738-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=54912738&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TOM1L1",
"hgnc_id": 11983,
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005486.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.6226,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.38440555334091187,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 476,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1431,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005486.3",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000575882.6",
"protein_coding": true,
"protein_id": "NP_005477.2",
"strand": true,
"transcript": "NM_005486.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 476,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1431,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575882.6",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005486.3",
"protein_coding": true,
"protein_id": "ENSP00000460823.1",
"strand": true,
"transcript": "ENST00000575882.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1041,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575333.5",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458918.1",
"strand": true,
"transcript": "ENST00000575333.5",
"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": 1252,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000576932.5",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "n.64G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461876.1",
"strand": true,
"transcript": "ENST00000576932.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1527,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851795.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521854.1",
"strand": true,
"transcript": "ENST00000851795.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 476,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 327,
"cds_end": null,
"cds_length": 1431,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851789.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521848.1",
"strand": true,
"transcript": "ENST00000851789.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 476,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1431,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851790.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521849.1",
"strand": true,
"transcript": "ENST00000851790.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 476,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1431,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940214.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610273.1",
"strand": true,
"transcript": "ENST00000940214.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1410,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000572158.5",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461284.1",
"strand": true,
"transcript": "ENST00000572158.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1410,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964388.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634447.1",
"strand": true,
"transcript": "ENST00000964388.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 465,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 409,
"cds_end": null,
"cds_length": 1398,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000445275.6",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408958.2",
"strand": true,
"transcript": "ENST00000445275.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 465,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 327,
"cds_end": null,
"cds_length": 1398,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851792.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521851.1",
"strand": true,
"transcript": "ENST00000851792.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 465,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1398,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964387.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634446.1",
"strand": true,
"transcript": "ENST00000964387.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 458,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1377,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851793.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521852.1",
"strand": true,
"transcript": "ENST00000851793.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 439,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1320,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964386.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634445.1",
"strand": true,
"transcript": "ENST00000964386.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1200,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321174.2",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Glu22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308103.1",
"strand": true,
"transcript": "NM_001321174.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1200,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321175.2",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Glu22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308104.1",
"strand": true,
"transcript": "NM_001321175.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1200,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321176.2",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Glu22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308105.1",
"strand": true,
"transcript": "NM_001321176.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1200,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000348161.8",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Glu22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343901.4",
"strand": true,
"transcript": "ENST00000348161.8",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1200,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000536554.5",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Glu22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443099.1",
"strand": true,
"transcript": "ENST00000536554.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1191,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851791.1",
"gene_hgnc_id": 11983,
"gene_symbol": "TOM1L1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"intron_rank": null,
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},
{
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"3_prime_UTR_variant"
],
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"feature": "ENST00000572360.5",
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],
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"dbsnp": "rs143746381",
"effect": "missense_variant",
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.624,
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"ref": "G",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}