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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: 16-199131-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=199131&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LUC7L",
"hgnc_id": 6723,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_201412.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_score": -8,
"allele_count_reference_population": 117,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "LUC7L-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1116,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_201412.3",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293872.13",
"protein_coding": true,
"protein_id": "NP_958815.1",
"strand": false,
"transcript": "NM_201412.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1116,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000293872.13",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201412.3",
"protein_coding": true,
"protein_id": "ENSP00000293872.8",
"strand": false,
"transcript": "ENST00000293872.13",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 742,
"cds_end": null,
"cds_length": 978,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000337351.8",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337507.4",
"strand": false,
"transcript": "ENST00000337351.8",
"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": 2737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426094.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.*1781G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390953.1",
"strand": false,
"transcript": "ENST00000426094.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000490762.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.1796G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490762.5",
"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": 2737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426094.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.*1781G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390953.1",
"strand": false,
"transcript": "ENST00000426094.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 361,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1086,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862883.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532942.1",
"strand": false,
"transcript": "ENST00000862883.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1017,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862884.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532943.1",
"strand": false,
"transcript": "ENST00000862884.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 334,
"aa_ref": "L",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1005,
"cds_start": 507,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920890.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.507G>A",
"hgvs_p": "p.Leu169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590949.1",
"strand": false,
"transcript": "ENST00000920890.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 328,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 629,
"cds_end": null,
"cds_length": 987,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920887.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590946.1",
"strand": false,
"transcript": "ENST00000920887.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 728,
"cds_end": null,
"cds_length": 978,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320226.2",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307155.1",
"strand": false,
"transcript": "NM_001320226.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 728,
"cds_end": null,
"cds_length": 978,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018032.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060502.1",
"strand": false,
"transcript": "NM_018032.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 742,
"cds_end": null,
"cds_length": 978,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397783.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380885.1",
"strand": false,
"transcript": "ENST00000397783.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 587,
"cds_end": null,
"cds_length": 972,
"cds_start": 474,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920888.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.474G>A",
"hgvs_p": "p.Leu158Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590947.1",
"strand": false,
"transcript": "ENST00000920888.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 315,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1262,
"cdna_start": 729,
"cds_end": null,
"cds_length": 948,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920889.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590948.1",
"strand": false,
"transcript": "ENST00000920889.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 720,
"cds_end": null,
"cds_length": 918,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949702.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Leu206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619761.1",
"strand": false,
"transcript": "ENST00000949702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 282,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 626,
"cds_end": null,
"cds_length": 849,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949701.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619760.1",
"strand": false,
"transcript": "ENST00000949701.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "L",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 819,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330420.2",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Leu153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317349.1",
"strand": false,
"transcript": "NM_001330420.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "L",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 907,
"cds_end": null,
"cds_length": 819,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397780.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Leu153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380882.1",
"strand": false,
"transcript": "ENST00000397780.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 181,
"aa_ref": "L",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 695,
"cdna_start": 507,
"cds_end": null,
"cds_length": 548,
"cds_start": 360,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000430864.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Leu120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406695.1",
"strand": false,
"transcript": "ENST00000430864.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1017,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011522561.3",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.519G>A",
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