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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: 20-62657032-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62657032&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62657032,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016354.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "NM_016354.4",
"protein_id": "NP_057438.3",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 578,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217159.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016354.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000217159.6",
"protein_id": "ENSP00000217159.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 578,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016354.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217159.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000370507.5",
"protein_id": "ENSP00000359538.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 578,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370507.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "n.578C>T",
"hgvs_p": null,
"transcript": "ENST00000497209.5",
"protein_id": "ENSP00000434245.1",
"transcript_support_level": 1,
"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": "ENST00000497209.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851400.1",
"protein_id": "ENSP00000521459.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 747,
"cds_start": 578,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851400.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851396.1",
"protein_id": "ENSP00000521455.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 743,
"cds_start": 578,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851396.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851397.1",
"protein_id": "ENSP00000521456.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 732,
"cds_start": 578,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851397.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000921991.1",
"protein_id": "ENSP00000592050.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 728,
"cds_start": 578,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921991.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851402.1",
"protein_id": "ENSP00000521461.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 704,
"cds_start": 578,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851402.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851399.1",
"protein_id": "ENSP00000521458.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 658,
"cds_start": 578,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851399.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000943510.1",
"protein_id": "ENSP00000613569.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 658,
"cds_start": 578,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943510.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851398.1",
"protein_id": "ENSP00000521457.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 651,
"cds_start": 578,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851398.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000943509.1",
"protein_id": "ENSP00000613568.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 615,
"cds_start": 578,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943509.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000851401.1",
"protein_id": "ENSP00000521460.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 605,
"cds_start": 578,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851401.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "XM_011528792.4",
"protein_id": "XP_011527094.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 768,
"cds_start": 578,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528792.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "XM_017027827.3",
"protein_id": "XP_016883316.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 700,
"cds_start": 578,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027827.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "XM_005260203.4",
"protein_id": "XP_005260260.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 684,
"cds_start": 578,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260203.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "XM_047440126.1",
"protein_id": "XP_047296082.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 432,
"cds_start": 578,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440126.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "XR_001754251.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001754251.3"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "XR_007067450.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007067450.1"
}
],
"gene_symbol": "SLCO4A1",
"gene_hgnc_id": 10953,
"dbsnp": "rs774364940",
"frequency_reference_population": 0.0000383479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000382383,
"gnomad_genomes_af": 0.000039383,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16862541437149048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.638,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016354.4",
"gene_symbol": "SLCO4A1",
"hgnc_id": 10953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}