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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: 6-56552747-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56552747&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56552747,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001374736.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16045A>T",
"hgvs_p": "p.Thr5349Ser",
"transcript": "NM_001374736.1",
"protein_id": "NP_001361665.1",
"transcript_support_level": null,
"aa_start": 5349,
"aa_end": null,
"aa_length": 7818,
"cds_start": 16045,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680361.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374736.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16045A>T",
"hgvs_p": "p.Thr5349Ser",
"transcript": "ENST00000680361.1",
"protein_id": "ENSP00000505098.1",
"transcript_support_level": null,
"aa_start": 5349,
"aa_end": null,
"aa_length": 7818,
"cds_start": 16045,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001374736.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680361.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.8176A>T",
"hgvs_p": "p.Thr2726Ser",
"transcript": "ENST00000244364.10",
"protein_id": "ENSP00000244364.6",
"transcript_support_level": 1,
"aa_start": 2726,
"aa_end": null,
"aa_length": 5171,
"cds_start": 8176,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244364.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16072A>T",
"hgvs_p": "p.Thr5358Ser",
"transcript": "NM_001374734.1",
"protein_id": "NP_001361663.1",
"transcript_support_level": null,
"aa_start": 5358,
"aa_end": null,
"aa_length": 7803,
"cds_start": 16072,
"cds_end": null,
"cds_length": 23412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374734.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16045A>T",
"hgvs_p": "p.Thr5349Ser",
"transcript": "NM_001374722.1",
"protein_id": "NP_001361651.1",
"transcript_support_level": null,
"aa_start": 5349,
"aa_end": null,
"aa_length": 7794,
"cds_start": 16045,
"cds_end": null,
"cds_length": 23385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374722.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15412A>T",
"hgvs_p": "p.Thr5138Ser",
"transcript": "NM_001374729.1",
"protein_id": "NP_001361658.1",
"transcript_support_level": null,
"aa_start": 5138,
"aa_end": null,
"aa_length": 7461,
"cds_start": 15412,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374729.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15412A>T",
"hgvs_p": "p.Thr5138Ser",
"transcript": "ENST00000361203.7",
"protein_id": "ENSP00000354508.3",
"transcript_support_level": 5,
"aa_start": 5138,
"aa_end": null,
"aa_length": 7461,
"cds_start": 15412,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361203.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9688A>T",
"hgvs_p": "p.Thr3230Ser",
"transcript": "NM_001144769.5",
"protein_id": "NP_001138241.1",
"transcript_support_level": null,
"aa_start": 3230,
"aa_end": null,
"aa_length": 5675,
"cds_start": 9688,
"cds_end": null,
"cds_length": 17028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144769.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9688A>T",
"hgvs_p": "p.Thr3230Ser",
"transcript": "ENST00000449297.7",
"protein_id": "ENSP00000393082.3",
"transcript_support_level": 5,
"aa_start": 3230,
"aa_end": null,
"aa_length": 5560,
"cds_start": 9688,
"cds_end": null,
"cds_length": 16683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449297.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9274A>T",
"hgvs_p": "p.Thr3092Ser",
"transcript": "NM_001144770.2",
"protein_id": "NP_001138242.1",
"transcript_support_level": null,
"aa_start": 3092,
"aa_end": null,
"aa_length": 5537,
"cds_start": 9274,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144770.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9274A>T",
"hgvs_p": "p.Thr3092Ser",
"transcript": "ENST00000312431.10",
"protein_id": "ENSP00000307959.7",
"transcript_support_level": 5,
"aa_start": 3092,
"aa_end": null,
"aa_length": 5537,
"cds_start": 9274,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312431.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9154A>T",
"hgvs_p": "p.Thr3052Ser",
"transcript": "NM_183380.4",
"protein_id": "NP_899236.1",
"transcript_support_level": null,
"aa_start": 3052,
"aa_end": null,
"aa_length": 5497,
"cds_start": 9154,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183380.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9154A>T",
"hgvs_p": "p.Thr3052Ser",
"transcript": "ENST00000421834.7",
"protein_id": "ENSP00000400883.3",
"transcript_support_level": 5,
"aa_start": 3052,
"aa_end": null,
"aa_length": 5497,
"cds_start": 9154,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421834.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9154A>T",
"hgvs_p": "p.Thr3052Ser",
"transcript": "NM_001386100.1",
"protein_id": "NP_001373029.1",
"transcript_support_level": null,
"aa_start": 3052,
"aa_end": null,
"aa_length": 5491,
"cds_start": 9154,
"cds_end": null,
"cds_length": 16476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386100.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9274A>T",
"hgvs_p": "p.Thr3092Ser",
"transcript": "ENST00000520645.6",
"protein_id": "ENSP00000431030.2",
"transcript_support_level": 2,
"aa_start": 3092,
"aa_end": null,
"aa_length": 5422,
"cds_start": 9274,
"cds_end": null,
"cds_length": 16269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520645.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9154A>T",
"hgvs_p": "p.Thr3052Ser",
"transcript": "NM_001374730.1",
"protein_id": "NP_001361659.1",
"transcript_support_level": null,
"aa_start": 3052,
"aa_end": null,
"aa_length": 5375,
"cds_start": 9154,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374730.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.9154A>T",
"hgvs_p": "p.Thr3052Ser",
"transcript": "ENST00000370788.6",
"protein_id": "ENSP00000359824.2",
"transcript_support_level": 5,
"aa_start": 3052,
"aa_end": null,
"aa_length": 5375,
"cds_start": 9154,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370788.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.8176A>T",
"hgvs_p": "p.Thr2726Ser",
"transcript": "NM_015548.5",
"protein_id": "NP_056363.2",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 5171,
"cds_start": 8176,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015548.5"
}
],
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"dbsnp": "rs4715631",
"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": 0.09450793266296387,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1132,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.744,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001374736.1",
"gene_symbol": "DST",
"hgnc_id": 1090,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16045A>T",
"hgvs_p": "p.Thr5349Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}