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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: 12-64728986-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64728986&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64728986,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_002076.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs",
"transcript": "NM_002076.4",
"protein_id": "NP_002067.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 552,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": "ENST00000258145.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002076.4"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs",
"transcript": "ENST00000258145.8",
"protein_id": "ENSP00000258145.3",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 552,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": "NM_002076.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258145.8"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1001delA",
"hgvs_p": "p.Gln334fs",
"transcript": "ENST00000418919.6",
"protein_id": "ENSP00000413130.2",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 496,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418919.6"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1283delA",
"hgvs_p": "p.Gln428fs",
"transcript": "ENST00000967913.1",
"protein_id": "ENSP00000637972.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 590,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967913.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1280delA",
"hgvs_p": "p.Gln427fs",
"transcript": "ENST00000967915.1",
"protein_id": "ENSP00000637974.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 589,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967915.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1265delA",
"hgvs_p": "p.Gln422fs",
"transcript": "ENST00000543646.5",
"protein_id": "ENSP00000438497.1",
"transcript_support_level": 2,
"aa_start": 422,
"aa_end": null,
"aa_length": 584,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543646.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs",
"transcript": "ENST00000905555.1",
"protein_id": "ENSP00000575614.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 550,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905555.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1163delA",
"hgvs_p": "p.Gln388fs",
"transcript": "ENST00000967914.1",
"protein_id": "ENSP00000637973.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 550,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967914.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1112delA",
"hgvs_p": "p.Gln371fs",
"transcript": "ENST00000905554.1",
"protein_id": "ENSP00000575613.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 533,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905554.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1109delA",
"hgvs_p": "p.Gln370fs",
"transcript": "ENST00000542058.5",
"protein_id": "ENSP00000444819.1",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 532,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542058.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs",
"transcript": "ENST00000905553.1",
"protein_id": "ENSP00000575612.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 516,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905553.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs",
"transcript": "ENST00000967916.1",
"protein_id": "ENSP00000637975.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 514,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967916.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.863delA",
"hgvs_p": "p.Gln288fs",
"transcript": "ENST00000905556.1",
"protein_id": "ENSP00000575615.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 450,
"cds_start": 863,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905556.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.323delA",
"hgvs_p": "p.Gln108fs",
"transcript": "ENST00000967912.1",
"protein_id": "ENSP00000637971.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 270,
"cds_start": 323,
"cds_end": null,
"cds_length": 813,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1099-7282delA",
"hgvs_p": null,
"transcript": "ENST00000967918.1",
"protein_id": "ENSP00000637977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.793-5874delA",
"hgvs_p": null,
"transcript": "ENST00000967917.1",
"protein_id": "ENSP00000637976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.556-5874delA",
"hgvs_p": null,
"transcript": "ENST00000540196.5",
"protein_id": "ENSP00000437782.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "n.168delA",
"hgvs_p": null,
"transcript": "ENST00000537823.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000537823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "n.232delA",
"hgvs_p": null,
"transcript": "ENST00000540883.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000540883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "n.1224delA",
"hgvs_p": null,
"transcript": "ENST00000541781.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541781.5"
}
],
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"dbsnp": "rs483352898",
"frequency_reference_population": 6.957751e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.95775e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.996,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_002076.4",
"gene_symbol": "GNS",
"hgnc_id": 4422,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1169delA",
"hgvs_p": "p.Gln390fs"
}
],
"clinvar_disease": " MPS-III-D,Mucopolysaccharidosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mucopolysaccharidosis, MPS-III-D",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}