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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: 5-102373370-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=102373370&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 102373370,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_173488.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys",
"transcript": "NM_173488.5",
"protein_id": "NP_775759.3",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 719,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": "ENST00000506729.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173488.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys",
"transcript": "ENST00000506729.6",
"protein_id": "ENSP00000421339.1",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 719,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": "NM_173488.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506729.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys",
"transcript": "ENST00000379807.7",
"protein_id": "ENSP00000369135.3",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 719,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379807.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1956A>G",
"hgvs_p": "p.Lys652Lys",
"transcript": "ENST00000389019.7",
"protein_id": "ENSP00000373671.3",
"transcript_support_level": 1,
"aa_start": 652,
"aa_end": null,
"aa_length": 657,
"cds_start": 1956,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389019.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys",
"transcript": "NM_001289002.2",
"protein_id": "NP_001275931.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 719,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289002.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1956A>G",
"hgvs_p": "p.Lys652Lys",
"transcript": "NM_001289004.2",
"protein_id": "NP_001275933.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 657,
"cds_start": 1956,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289004.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Lys461Lys",
"transcript": "NM_001308014.2",
"protein_id": "NP_001294943.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 466,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308014.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Lys461Lys",
"transcript": "ENST00000513675.1",
"protein_id": "ENSP00000421990.1",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 466,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513675.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.60A>G",
"hgvs_p": "p.Lys20Lys",
"transcript": "ENST00000511588.1",
"protein_id": "ENSP00000421846.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 25,
"cds_start": 60,
"cds_end": null,
"cds_length": 78,
"cdna_start": 60,
"cdna_end": null,
"cdna_length": 432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511588.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys",
"transcript": "XM_005271874.4",
"protein_id": "XP_005271931.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 719,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271874.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.2037A>G",
"hgvs_p": "p.Lys679Lys",
"transcript": "XM_011543147.3",
"protein_id": "XP_011541449.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 684,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543147.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1956A>G",
"hgvs_p": "p.Lys652Lys",
"transcript": "XM_047416703.1",
"protein_id": "XP_047272659.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 657,
"cds_start": 1956,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416703.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1905A>G",
"hgvs_p": "p.Lys635Lys",
"transcript": "XM_011543148.3",
"protein_id": "XP_011541450.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 640,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543148.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Lys471Lys",
"transcript": "XM_011543150.2",
"protein_id": "XP_011541452.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 476,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543150.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"hgvs_c": "n.512A>G",
"hgvs_p": null,
"transcript": "ENST00000514765.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 672,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514765.6"
}
],
"gene_symbol": "SLCO6A1",
"gene_hgnc_id": 23613,
"dbsnp": "rs146381310",
"frequency_reference_population": 0.0011806912,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1847,
"gnomad_exomes_af": 0.00121158,
"gnomad_genomes_af": 0.000893961,
"gnomad_exomes_ac": 1711,
"gnomad_genomes_ac": 136,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.664,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_173488.5",
"gene_symbol": "SLCO6A1",
"hgnc_id": 23613,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2142A>G",
"hgvs_p": "p.Lys714Lys"
}
],
"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
}