← Back to variant description
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: 19-35249039-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35249039&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35249039,
"ref": "GC",
"alt": "AA",
"effect": "missense_variant",
"transcript": "NM_205834.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_205834.4",
"protein_id": "NP_991403.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 601,
"cds_start": 17,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": "ENST00000605618.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000605618.6",
"protein_id": "ENSP00000474797.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 601,
"cds_start": 17,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": "NM_205834.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.161_162delGCinsAA",
"hgvs_p": "p.Gly54Glu",
"transcript": "ENST00000621372.4",
"protein_id": "ENSP00000480821.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 649,
"cds_start": 161,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000361790.7",
"protein_id": "ENSP00000354575.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 601,
"cds_start": 17,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000354900.7",
"protein_id": "ENSP00000346976.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 582,
"cds_start": 17,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.152+9_152+10delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000347609.8",
"protein_id": "ENSP00000262627.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_015925.7",
"protein_id": "NP_057009.4",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 582,
"cds_start": 17,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_001260489.2",
"protein_id": "NP_001247418.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 581,
"cds_start": 17,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000602122.5",
"protein_id": "ENSP00000472569.2",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 581,
"cds_start": 17,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_205835.4",
"protein_id": "NP_991404.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 533,
"cds_start": 17,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000360798.7",
"protein_id": "ENSP00000354034.3",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 533,
"cds_start": 17,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_001385215.1",
"protein_id": "NP_001372144.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 532,
"cds_start": 17,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "NM_001260490.2",
"protein_id": "NP_001247419.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 493,
"cds_start": 17,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "ENST00000427250.5",
"protein_id": "ENSP00000394479.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 493,
"cds_start": 17,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "XM_005258980.3",
"protein_id": "XP_005259037.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 600,
"cds_start": 17,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "XM_011527026.3",
"protein_id": "XP_011525328.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 552,
"cds_start": 17,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "XM_047438920.1",
"protein_id": "XP_047294876.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 551,
"cds_start": 17,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu",
"transcript": "XM_047438921.1",
"protein_id": "XP_047294877.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 492,
"cds_start": 17,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "c.98+63_98+64delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000602003.1",
"protein_id": "ENSP00000471486.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "n.173+537_173+538delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000597933.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"hgvs_c": "n.-62_-61delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000602044.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LSR",
"gene_hgnc_id": 29572,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.282,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_205834.4",
"gene_symbol": "LSR",
"hgnc_id": 29572,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17_18delGCinsAA",
"hgvs_p": "p.Gly6Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}