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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: 9-137234125-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137234125&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC34A3",
"hgnc_id": 20305,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"inheritance_mode": "AR,SD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_080877.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001177316.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000673835.1",
"protein_coding": true,
"protein_id": "NP_001170787.2",
"strand": true,
"transcript": "NM_001177316.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000673835.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001177316.2",
"protein_coding": true,
"protein_id": "ENSP00000501114.1",
"strand": true,
"transcript": "ENST00000673835.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001177317.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170788.2",
"strand": true,
"transcript": "NM_001177317.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_080877.3",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_543153.2",
"strand": true,
"transcript": "NM_080877.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361134.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355353.2",
"strand": true,
"transcript": "ENST00000361134.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000538474.5",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442397.1",
"strand": true,
"transcript": "ENST00000538474.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1059,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000673865.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501101.1",
"strand": true,
"transcript": "ENST00000673865.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422785.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278741.1",
"strand": true,
"transcript": "XM_047422785.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422786.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278742.1",
"strand": true,
"transcript": "XM_047422786.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422787.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278743.1",
"strand": true,
"transcript": "XM_047422787.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422788.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278744.1",
"strand": true,
"transcript": "XM_047422788.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422789.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278745.1",
"strand": true,
"transcript": "XM_047422789.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422790.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278746.1",
"strand": true,
"transcript": "XM_047422790.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422791.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278747.1",
"strand": true,
"transcript": "XM_047422791.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 632,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422792.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.1041G>T",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278748.1",
"strand": true,
"transcript": "XM_047422792.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1878,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011518258.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516560.1",
"strand": true,
"transcript": "XM_011518258.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1878,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011518259.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516561.1",
"strand": true,
"transcript": "XM_011518259.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 625,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1878,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011518260.2",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516562.1",
"strand": true,
"transcript": "XM_011518260.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1800,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422793.1",
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Ala314Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278749.1",
"strand": true,
"transcript": "XM_047422793.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs34664302",
"effect": "synonymous_variant",
"frequency_reference_population": 6.951077e-7,
"gene_hgnc_id": 20305,
"gene_symbol": "SLC34A3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.95108e-7,
"gnomad_exomes_homalt": 0,
"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": -1.516,
"pos": 137234125,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_080877.3"
}
]
}