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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: 17-28490571-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28490571&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28490571,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000314669.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "NM_003984.4",
"protein_id": "NP_003975.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 592,
"cds_start": 349,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": "ENST00000314669.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "ENST00000314669.10",
"protein_id": "ENSP00000316202.6",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 592,
"cds_start": 349,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": "NM_003984.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RSKR",
"gene_hgnc_id": 26314,
"hgvs_c": "n.*1196-34462C>T",
"hgvs_p": null,
"transcript": "ENST00000481916.6",
"protein_id": "ENSP00000436369.2",
"transcript_support_level": 1,
"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": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "NM_001145975.2",
"protein_id": "NP_001139447.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 641,
"cds_start": 496,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "ENST00000444914.7",
"protein_id": "ENSP00000392411.3",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 641,
"cds_start": 496,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "NM_001346683.2",
"protein_id": "NP_001333612.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 548,
"cds_start": 217,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "ENST00000579281.5",
"protein_id": "ENSP00000463421.2",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 548,
"cds_start": 217,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Val46Ile",
"transcript": "NM_001346684.2",
"protein_id": "NP_001333613.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 521,
"cds_start": 136,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "XM_011525450.4",
"protein_id": "XP_011523752.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 642,
"cds_start": 496,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_047437011.1",
"protein_id": "XP_047292967.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 597,
"cds_start": 364,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "XM_011525452.2",
"protein_id": "XP_011523754.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 593,
"cds_start": 349,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "XM_011525453.3",
"protein_id": "XP_011523755.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 569,
"cds_start": 496,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "XM_011525454.4",
"protein_id": "XP_011523756.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 471,
"cds_start": 496,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.279G>A",
"hgvs_p": null,
"transcript": "ENST00000459818.2",
"protein_id": "ENSP00000464074.2",
"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": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.195G>A",
"hgvs_p": null,
"transcript": "ENST00000541739.6",
"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": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"hgvs_c": "n.511G>A",
"hgvs_p": null,
"transcript": "ENST00000577903.5",
"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": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC13A2",
"gene_hgnc_id": 10917,
"dbsnp": "rs11568463",
"frequency_reference_population": 0.000008102707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000757459,
"gnomad_genomes_af": 0.0000131425,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12464553117752075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.312,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000314669.10",
"gene_symbol": "SLC13A2",
"hgnc_id": 10917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1196-34462C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}