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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: 17-19681658-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19681658&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19681658,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000433844.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"transcript": "NM_001099646.3",
"protein_id": "NP_001093116.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 566,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": "ENST00000433844.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"transcript": "ENST00000433844.4",
"protein_id": "ENSP00000391848.3",
"transcript_support_level": 5,
"aa_start": 393,
"aa_end": null,
"aa_length": 566,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": "NM_001099646.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "ENST00000325411.9",
"protein_id": "ENSP00000326671.5",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 602,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Gly407Arg",
"transcript": "ENST00000350657.9",
"protein_id": "ENSP00000338084.6",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 580,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2285,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1847G>A",
"hgvs_p": null,
"transcript": "ENST00000463318.5",
"protein_id": null,
"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": 2742,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*595G>A",
"hgvs_p": null,
"transcript": "ENST00000574239.5",
"protein_id": "ENSP00000458694.1",
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*595G>A",
"hgvs_p": null,
"transcript": "ENST00000574239.5",
"protein_id": "ENSP00000458694.1",
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "NM_152908.5",
"protein_id": "NP_690872.2",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 602,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Gly407Arg",
"transcript": "NM_001256663.3",
"protein_id": "NP_001243592.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 580,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Gly443Arg",
"transcript": "XM_017024221.2",
"protein_id": "XP_016879710.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 616,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "XM_017024222.3",
"protein_id": "XP_016879711.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 567,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2966,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1230G>A",
"hgvs_p": null,
"transcript": "ENST00000467609.5",
"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": 2201,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1847G>A",
"hgvs_p": null,
"transcript": "NR_135624.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2740,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1284G>A",
"hgvs_p": null,
"transcript": "NR_135625.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2177,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1280G>A",
"hgvs_p": null,
"transcript": "XR_001752432.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1444-3617C>T",
"hgvs_p": null,
"transcript": "ENST00000671878.1",
"protein_id": "ENSP00000500516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1444-3617C>T",
"hgvs_p": null,
"transcript": "ENST00000672465.1",
"protein_id": "ENSP00000500517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1097-3617C>T",
"hgvs_p": null,
"transcript": "ENST00000672567.1",
"protein_id": "ENSP00000500777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"dbsnp": "rs34399035",
"frequency_reference_population": 0.0061359396,
"hom_count_reference_population": 53,
"allele_count_reference_population": 9895,
"gnomad_exomes_af": 0.00630256,
"gnomad_genomes_af": 0.00453799,
"gnomad_exomes_ac": 9204,
"gnomad_genomes_ac": 691,
"gnomad_exomes_homalt": 48,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02423083782196045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.536,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000433844.4",
"gene_symbol": "SLC47A2",
"hgnc_id": 26439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000671878.1",
"gene_symbol": "ALDH3A2",
"hgnc_id": 403,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444-3617C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}