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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: 17-6706643-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6706643&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6706643,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_177550.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_177550.5",
"protein_id": "NP_808218.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 568,
"cds_start": 367,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433363.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177550.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000433363.7",
"protein_id": "ENSP00000406220.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 568,
"cds_start": 367,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177550.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433363.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000573648.5",
"protein_id": "ENSP00000459372.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 522,
"cds_start": 367,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573648.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000898130.1",
"protein_id": "ENSP00000568189.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 564,
"cds_start": 367,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898130.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Cys",
"transcript": "NM_001284509.2",
"protein_id": "NP_001271438.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 551,
"cds_start": 367,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284509.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Cys",
"transcript": "ENST00000293800.10",
"protein_id": "ENSP00000293800.6",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 551,
"cds_start": 367,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293800.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000949501.1",
"protein_id": "ENSP00000619560.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 527,
"cds_start": 367,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949501.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"transcript": "NM_001284510.2",
"protein_id": "NP_001271439.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 525,
"cds_start": 238,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284510.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"transcript": "ENST00000381074.8",
"protein_id": "ENSP00000370464.4",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 525,
"cds_start": 238,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381074.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_001143838.3",
"protein_id": "NP_001137310.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 522,
"cds_start": 367,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143838.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000898131.1",
"protein_id": "ENSP00000568190.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 496,
"cds_start": 367,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898131.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000898132.1",
"protein_id": "ENSP00000568191.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 468,
"cds_start": 367,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898132.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Trp",
"transcript": "ENST00000572352.5",
"protein_id": "ENSP00000461622.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 166,
"cds_start": 256,
"cds_end": null,
"cds_length": 502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572352.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "XM_011523795.4",
"protein_id": "XP_011522097.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 498,
"cds_start": 367,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523795.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"transcript": "ENST00000572094.1",
"protein_id": "ENSP00000461495.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*213C>T",
"hgvs_p": null,
"transcript": "ENST00000575230.1",
"protein_id": "ENSP00000460903.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "ENST00000576323.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000576323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"transcript": "ENST00000572094.1",
"protein_id": "ENSP00000461495.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*213C>T",
"hgvs_p": null,
"transcript": "ENST00000575230.1",
"protein_id": "ENSP00000460903.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575230.1"
}
],
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"dbsnp": "rs754937425",
"frequency_reference_population": 0.00004153107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000451761,
"gnomad_genomes_af": 0.00000656599,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2512478828430176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8100000023841858,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.089,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.179,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.994296726518649,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_177550.5",
"gene_symbol": "SLC13A5",
"hgnc_id": 23089,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp"
}
],
"clinvar_disease": " 25,Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Developmental and epileptic encephalopathy, 25|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}