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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: 5-1057500-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1057500&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1057500,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006598.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2997T>A",
"hgvs_p": "p.Ser999Ser",
"transcript": "NM_006598.3",
"protein_id": "NP_006589.2",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264930.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006598.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2997T>A",
"hgvs_p": "p.Ser999Ser",
"transcript": "ENST00000264930.10",
"protein_id": "ENSP00000264930.5",
"transcript_support_level": 1,
"aa_start": 999,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006598.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264930.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2697T>A",
"hgvs_p": "p.Ser899Ser",
"transcript": "ENST00000634447.1",
"protein_id": "ENSP00000489285.1",
"transcript_support_level": 5,
"aa_start": 899,
"aa_end": null,
"aa_length": 988,
"cds_start": 2697,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634447.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3099T>A",
"hgvs_p": "p.Ser1033Ser",
"transcript": "ENST00000945163.1",
"protein_id": "ENSP00000615222.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945163.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3066T>A",
"hgvs_p": "p.Ser1022Ser",
"transcript": "ENST00000851006.1",
"protein_id": "ENSP00000521081.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851006.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3012T>A",
"hgvs_p": "p.Ser1004Ser",
"transcript": "ENST00000922388.1",
"protein_id": "ENSP00000592447.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3012,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922388.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3066T>A",
"hgvs_p": "p.Ser1022Ser",
"transcript": "XM_011513941.3",
"protein_id": "XP_011512243.2",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513941.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2997T>A",
"hgvs_p": "p.Ser999Ser",
"transcript": "XM_005248231.4",
"protein_id": "XP_005248288.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248231.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2988T>A",
"hgvs_p": "p.Ser996Ser",
"transcript": "XM_011513939.4",
"protein_id": "XP_011512241.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2988,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513939.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2955T>A",
"hgvs_p": "p.Ser985Ser",
"transcript": "XM_011513940.3",
"protein_id": "XP_011512242.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513940.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2793T>A",
"hgvs_p": "p.Ser931Ser",
"transcript": "XM_017008958.2",
"protein_id": "XP_016864447.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2793,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008958.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2793T>A",
"hgvs_p": "p.Ser931Ser",
"transcript": "XM_047416640.1",
"protein_id": "XP_047272596.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2793,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.1397-5049T>A",
"hgvs_p": null,
"transcript": "ENST00000902220.1",
"protein_id": "ENSP00000572279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902220.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "n.297T>A",
"hgvs_p": null,
"transcript": "ENST00000514994.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000514994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.*28T>A",
"hgvs_p": null,
"transcript": "ENST00000513223.2",
"protein_id": "ENSP00000428854.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513223.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "n.*55T>A",
"hgvs_p": null,
"transcript": "XR_007058569.1",
"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_007058569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "n.*55T>A",
"hgvs_p": null,
"transcript": "XR_007058570.1",
"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_007058570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "n.*55T>A",
"hgvs_p": null,
"transcript": "XR_007058571.1",
"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_007058571.1"
}
],
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"dbsnp": "rs2241606",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 0.03999999910593033,
"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": -1.727,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006598.3",
"gene_symbol": "SLC12A7",
"hgnc_id": 10915,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2997T>A",
"hgvs_p": "p.Ser999Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}