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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: 17-18969052-CTG-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18969052&ref=CTG&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SLC5A10",
"hgnc_id": 23155,
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_152351.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "FAM83G",
"hgnc_id": 32554,
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001039999.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1791,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042450.4",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395645.4",
"protein_coding": true,
"protein_id": "NP_001035915.1",
"strand": true,
"transcript": "NM_001042450.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1791,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395645.4",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042450.4",
"protein_coding": true,
"protein_id": "ENSP00000379007.3",
"strand": true,
"transcript": "ENST00000395645.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 569,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1710,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395643.6",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379005.2",
"strand": true,
"transcript": "ENST00000395643.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 566,
"aa_ref": "L",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1701,
"cds_start": 286,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317977.10",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.286_288delCTGinsGTC",
"hgvs_p": "p.Leu96Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324346.6",
"strand": true,
"transcript": "ENST00000317977.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": null,
"cds_end": null,
"cds_length": 2472,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001039999.3",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388995.11",
"protein_coding": true,
"protein_id": "NP_001035088.2",
"strand": false,
"transcript": "NM_001039999.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": null,
"cds_end": null,
"cds_length": 2472,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000388995.11",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039999.3",
"protein_coding": true,
"protein_id": "ENSP00000373647.5",
"strand": false,
"transcript": "ENST00000388995.11",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1839,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152351.6",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689564.3",
"strand": true,
"transcript": "NM_152351.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1839,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395647.6",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379008.2",
"strand": true,
"transcript": "ENST00000395647.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 585,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1758,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884499.1",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554558.1",
"strand": true,
"transcript": "ENST00000884499.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 569,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1710,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270648.3",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257577.1",
"strand": true,
"transcript": "NM_001270648.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 566,
"aa_ref": "L",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1701,
"cds_start": 286,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282417.1",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.286_288delCTGinsGTC",
"hgvs_p": "p.Leu96Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269346.1",
"strand": true,
"transcript": "NM_001282417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "L",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1686,
"cds_start": 349,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961493.1",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.349_351delCTGinsGTC",
"hgvs_p": "p.Leu117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631552.1",
"strand": true,
"transcript": "ENST00000961493.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 560,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1683,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270649.2",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257578.1",
"strand": true,
"transcript": "NM_001270649.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 560,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1683,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417251.6",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401875.2",
"strand": true,
"transcript": "ENST00000417251.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1950,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024191.3",
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"hgvs_c": "c.454_456delCTGinsGTC",
"hgvs_p": "p.Leu152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879680.2",
"strand": true,
"transcript": "XM_017024191.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5477,
"cdna_start": null,
"cds_end": null,
"cds_length": 2472,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884590.1",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554649.1",
"strand": false,
"transcript": "ENST00000884590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5235,
"cdna_start": null,
"cds_end": null,
"cds_length": 2472,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921602.1",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591661.1",
"strand": false,
"transcript": "ENST00000921602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5109,
"cdna_start": null,
"cds_end": null,
"cds_length": 2304,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921601.1",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591660.1",
"strand": false,
"transcript": "ENST00000921601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": null,
"cds_end": null,
"cds_length": 2472,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017024953.3",
"gene_hgnc_id": 32554,
"gene_symbol": "FAM83G",
"hgvs_c": "c.*2305_*2307delCAGinsGAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880442.1",
"strand": false,
"transcript": "XM_017024953.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 23155,
"gene_symbol": "SLC5A10",
"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": "Benign",
"phylop100way_score": 3.022,
"pos": 18969052,
"ref": "CTG",
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}
]
}