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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: 16-190067-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=190067&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LUC7L",
"hgnc_id": 6723,
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_201412.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1873,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27437645196914673,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 371,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1116,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_201412.3",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": "P",
"aa_end": null,
"aa_length": 371,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1116,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000293872.13",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 999,
"cds_end": null,
"cds_length": 978,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000337351.8",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000426094.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.*2038G>C",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000490762.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.2194G>C",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000426094.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "n.*2038G>C",
"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": "P",
"aa_end": null,
"aa_length": 361,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1086,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862883.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Pro",
"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": "P",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1017,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862884.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"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": "P",
"aa_end": null,
"aa_length": 334,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1005,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920890.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"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": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 856,
"cds_end": null,
"cds_length": 987,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920887.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"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": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 985,
"cds_end": null,
"cds_length": 978,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001320226.2",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 985,
"cds_end": null,
"cds_length": 978,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018032.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 999,
"cds_end": null,
"cds_length": 978,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397783.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"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": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 844,
"cds_end": null,
"cds_length": 972,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920888.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.731G>C",
"hgvs_p": "p.Arg244Pro",
"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": "P",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 2051,
"cds_end": null,
"cds_length": 819,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001330420.2",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Arg239Pro",
"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": "P",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 819,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397780.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Arg239Pro",
"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": "P",
"aa_end": null,
"aa_length": 227,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 548,
"cds_end": null,
"cds_length": 684,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920891.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.443G>C",
"hgvs_p": "p.Arg148Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590950.1",
"strand": false,
"transcript": "ENST00000920891.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 170,
"aa_ref": "R",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 272,
"cds_end": null,
"cds_length": 513,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000429378.5",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.272G>C",
"hgvs_p": "p.Arg91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413033.1",
"strand": false,
"transcript": "ENST00000429378.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 59,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 423,
"cdna_start": 78,
"cds_end": null,
"cds_length": 180,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000442701.1",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.77G>C",
"hgvs_p": "p.Arg26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407781.1",
"strand": false,
"transcript": "ENST00000442701.1",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1017,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011522561.3",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520863.1",
"strand": false,
"transcript": "XM_011522561.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 957,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005255427.4",
"gene_hgnc_id": 6723,
"gene_symbol": "LUC7L",
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Arg239Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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