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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: 12-39764542-TGC-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=39764542&ref=TGC&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC2A13",
"hgnc_id": 15956,
"hgvs_c": "c.1636_1638delGCAinsTCC",
"hgvs_p": "p.Ala546Ser",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_052885.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "REDIC1",
"hgnc_id": 26846,
"hgvs_c": "n.*725-198_*725-196delTGCinsGGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000468200.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7221,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052885.4",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1636_1638delGCAinsTCC",
"hgvs_p": "p.Ala546Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280871.9",
"protein_coding": true,
"protein_id": "NP_443117.3",
"strand": false,
"transcript": "NM_052885.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7221,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280871.9",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1636_1638delGCAinsTCC",
"hgvs_p": "p.Ala546Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052885.4",
"protein_coding": true,
"protein_id": "ENSP00000280871.4",
"strand": false,
"transcript": "ENST00000280871.9",
"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": 3061,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468200.2",
"gene_hgnc_id": 26846,
"gene_symbol": "REDIC1",
"hgvs_c": "n.*725-198_*725-196delTGCinsGGA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473371.1",
"strand": true,
"transcript": "ENST00000468200.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957640.1",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1807_1809delGCAinsTCC",
"hgvs_p": "p.Ala603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627699.1",
"strand": false,
"transcript": "ENST00000957640.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1690,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858173.1",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1690_1692delGCAinsTCC",
"hgvs_p": "p.Ala564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528232.1",
"strand": false,
"transcript": "ENST00000858173.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 606,
"aa_ref": "A",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858172.1",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1510_1512delGCAinsTCC",
"hgvs_p": "p.Ala504Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528231.1",
"strand": false,
"transcript": "ENST00000858172.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "A",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858171.1",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1267_1269delGCAinsTCC",
"hgvs_p": "p.Ala423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528230.1",
"strand": false,
"transcript": "ENST00000858171.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 606,
"aa_ref": "A",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7095,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537847.3",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1510_1512delGCAinsTCC",
"hgvs_p": "p.Ala504Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536149.1",
"strand": false,
"transcript": "XM_011537847.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 459,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6472,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018764.2",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1069_1071delGCAinsTCC",
"hgvs_p": "p.Ala357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874253.1",
"strand": false,
"transcript": "XM_017018764.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 459,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018765.2",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.1069_1071delGCAinsTCC",
"hgvs_p": "p.Ala357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874254.1",
"strand": false,
"transcript": "XM_017018765.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "A",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6279,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1227,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018766.2",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.916_918delGCAinsTCC",
"hgvs_p": "p.Ala306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874255.1",
"strand": false,
"transcript": "XM_017018766.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 555,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": null,
"cds_end": null,
"cds_length": 1668,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047428235.1",
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"hgvs_c": "c.*42_*44delGCAinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284191.1",
"strand": false,
"transcript": "XM_047428235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_135051.2",
"gene_hgnc_id": 26846,
"gene_symbol": "REDIC1",
"hgvs_c": "n.2156-198_2156-196delTGCinsGGA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_135051.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15956,
"gene_symbol": "SLC2A13",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.515,
"pos": 39764542,
"ref": "TGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_052885.4"
}
]
}