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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: 1-212080704-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212080704&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 212080704,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016448.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "NM_016448.4",
"protein_id": "NP_057532.4",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 730,
"cds_start": 1215,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": "ENST00000366991.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016448.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "ENST00000366991.5",
"protein_id": "ENSP00000355958.4",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 730,
"cds_start": 1215,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": "NM_016448.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366991.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1263G>T",
"hgvs_p": "p.Thr421Thr",
"transcript": "ENST00000935628.1",
"protein_id": "ENSP00000605687.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 746,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935628.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Thr404Thr",
"transcript": "ENST00000935625.1",
"protein_id": "ENSP00000605684.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 729,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935625.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "ENST00000935626.1",
"protein_id": "ENSP00000605685.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 728,
"cds_start": 1215,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935626.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1194G>T",
"hgvs_p": "p.Thr398Thr",
"transcript": "ENST00000935631.1",
"protein_id": "ENSP00000605690.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 723,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935631.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1149G>T",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000935624.1",
"protein_id": "ENSP00000605683.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 708,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935624.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1116G>T",
"hgvs_p": "p.Thr372Thr",
"transcript": "ENST00000935627.1",
"protein_id": "ENSP00000605686.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 697,
"cds_start": 1116,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935627.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1089G>T",
"hgvs_p": "p.Thr363Thr",
"transcript": "NM_001286230.2",
"protein_id": "NP_001273159.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1089,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286230.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1089G>T",
"hgvs_p": "p.Thr363Thr",
"transcript": "ENST00000542077.5",
"protein_id": "ENSP00000443870.1",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1089,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542077.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.990G>T",
"hgvs_p": "p.Thr330Thr",
"transcript": "ENST00000935629.1",
"protein_id": "ENSP00000605688.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 655,
"cds_start": 990,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935629.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.402G>T",
"hgvs_p": "p.Thr134Thr",
"transcript": "NM_001286229.2",
"protein_id": "NP_001273158.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 459,
"cds_start": 402,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286229.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Thr343Thr",
"transcript": "XM_011509614.2",
"protein_id": "XP_011507916.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 668,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509614.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.402G>T",
"hgvs_p": "p.Thr134Thr",
"transcript": "XM_047422489.1",
"protein_id": "XP_047278445.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 459,
"cds_start": 402,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.461-19548G>T",
"hgvs_p": null,
"transcript": "ENST00000935630.1",
"protein_id": "ENSP00000605689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.336G>T",
"hgvs_p": null,
"transcript": "ENST00000463791.1",
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.1030G>T",
"hgvs_p": null,
"transcript": "ENST00000475419.5",
"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": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475419.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.320G>T",
"hgvs_p": null,
"transcript": "ENST00000489149.1",
"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": 815,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489149.1"
}
],
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"dbsnp": "rs141132068",
"frequency_reference_population": 0.000010535736,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109482,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"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": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.005,
"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": -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_016448.4",
"gene_symbol": "DTL",
"hgnc_id": 30288,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Thr405Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}