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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: 12-103996747-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103996747&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103996747,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000360814.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384711.1",
"protein_id": "NP_001371640.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": "ENST00000360814.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "ENST00000360814.9",
"protein_id": "ENSP00000354053.4",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": "NM_001384711.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.603C>A",
"hgvs_p": "p.Leu201Leu",
"transcript": "NM_001384712.1",
"protein_id": "NP_001371641.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 354,
"cds_start": 603,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001316967.2",
"protein_id": "NP_001303896.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384713.1",
"protein_id": "NP_001371642.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384715.1",
"protein_id": "NP_001371644.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384716.1",
"protein_id": "NP_001371645.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384717.1",
"protein_id": "NP_001371646.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384718.1",
"protein_id": "NP_001371647.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384719.1",
"protein_id": "NP_001371648.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384720.1",
"protein_id": "NP_001371649.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384721.1",
"protein_id": "NP_001371650.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001384722.1",
"protein_id": "NP_001371651.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_031302.5",
"protein_id": "NP_112592.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "ENST00000546436.5",
"protein_id": "ENSP00000449750.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "ENST00000548660.5",
"protein_id": "ENSP00000447450.1",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_017019999.2",
"protein_id": "XP_016875488.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_047429629.1",
"protein_id": "XP_047285585.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 4714,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_047429630.1",
"protein_id": "XP_047285586.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
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"cdna_start": 4784,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_047429631.1",
"protein_id": "XP_047285587.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_047429632.1",
"protein_id": "XP_047285588.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 349,
"cds_start": 588,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "n.100C>A",
"hgvs_p": null,
"transcript": "ENST00000552572.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"dbsnp": "rs3817602",
"frequency_reference_population": 0.0000013696698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136967,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.8,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360814.9",
"gene_symbol": "GLT8D2",
"hgnc_id": 24890,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Leu196Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}