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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: 2-74536131-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74536131&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LOXL3",
"hgnc_id": 13869,
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_032603.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BA1",
"acmg_score": -17,
"allele_count_reference_population": 25153,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.2980000078678131,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_032603.5",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264094.8",
"protein_coding": true,
"protein_id": "NP_115992.1",
"strand": false,
"transcript": "NM_032603.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000264094.8",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032603.5",
"protein_coding": true,
"protein_id": "ENSP00000264094.3",
"strand": false,
"transcript": "ENST00000264094.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 760,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946469.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616528.1",
"strand": false,
"transcript": "ENST00000946469.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853956.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524015.1",
"strand": false,
"transcript": "ENST00000853956.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853957.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524016.1",
"strand": false,
"transcript": "ENST00000853957.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853958.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524017.1",
"strand": false,
"transcript": "ENST00000853958.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853959.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524018.1",
"strand": false,
"transcript": "ENST00000853959.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946465.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616524.1",
"strand": false,
"transcript": "ENST00000946465.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946466.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616525.1",
"strand": false,
"transcript": "ENST00000946466.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946467.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616526.1",
"strand": false,
"transcript": "ENST00000946467.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 752,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 2259,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946471.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616530.1",
"strand": false,
"transcript": "ENST00000946471.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 697,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409549.5",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386696.1",
"strand": false,
"transcript": "ENST00000409549.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 697,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946468.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616527.1",
"strand": false,
"transcript": "ENST00000946468.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 608,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1827,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001289164.3",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Leu226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276093.1",
"strand": false,
"transcript": "NM_001289164.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 608,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1827,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393937.6",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Leu226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377512.2",
"strand": false,
"transcript": "ENST00000393937.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 608,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1827,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934363.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Leu226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604422.1",
"strand": false,
"transcript": "ENST00000934363.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1761,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409986.5",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Leu226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386545.1",
"strand": false,
"transcript": "ENST00000409986.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"aa_length": 552,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1659,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946470.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Leu226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616529.1",
"strand": false,
"transcript": "ENST00000946470.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "L",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1179,
"cds_start": 30,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289165.2",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.30G>C",
"hgvs_p": "p.Leu10Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276094.1",
"strand": false,
"transcript": "NM_001289165.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 178,
"aa_ref": "L",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": 292,
"cds_end": null,
"cds_length": 538,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000420535.1",
"gene_hgnc_id": 13869,
"gene_symbol": "LOXL3",
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Leu97Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404026.1",
"strand": false,
"transcript": "ENST00000420535.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 753,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
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