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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: 1-169593666-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169593666&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169593666,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003005.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Thr782Thr",
"transcript": "NM_003005.4",
"protein_id": "NP_002996.2",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "ENST00000263686.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Thr782Thr",
"transcript": "ENST00000263686.11",
"protein_id": "ENSP00000263686.5",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "NM_003005.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2284+1026G>T",
"hgvs_p": null,
"transcript": "ENST00000426706.6",
"protein_id": "ENSP00000391694.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2160G>T",
"hgvs_p": "p.Thr720Thr",
"transcript": "ENST00000367786.6",
"protein_id": "ENSP00000356760.1",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 768,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2160G>T",
"hgvs_p": "p.Thr720Thr",
"transcript": "ENST00000367788.6",
"protein_id": "ENSP00000356762.1",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 768,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Thr598Thr",
"transcript": "ENST00000458599.6",
"protein_id": "ENSP00000399368.2",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 646,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Thr782Thr",
"transcript": "XM_005245435.3",
"protein_id": "XP_005245492.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Thr782Thr",
"transcript": "XM_005245436.5",
"protein_id": "XP_005245493.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2160G>T",
"hgvs_p": "p.Thr720Thr",
"transcript": "XM_005245440.3",
"protein_id": "XP_005245497.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 768,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2160G>T",
"hgvs_p": "p.Thr720Thr",
"transcript": "XM_047427583.1",
"protein_id": "XP_047283539.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 768,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2287+1026G>T",
"hgvs_p": null,
"transcript": "XM_005245438.3",
"protein_id": "XP_005245495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": -4,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2287+1026G>T",
"hgvs_p": null,
"transcript": "XM_005245439.3",
"protein_id": "XP_005245496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": -4,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"dbsnp": "rs6128",
"frequency_reference_population": 0.000008058517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000821289,
"gnomad_genomes_af": 0.0000065754,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020000000949949026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.002,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.886,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003005.4",
"gene_symbol": "SELP",
"hgnc_id": 10721,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Thr782Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}