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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: 1-77942745-TGGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77942745&ref=TGGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77942745,
"ref": "TGGA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_144573.4",
"consequences": [
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1949_1951delGAG",
"hgvs_p": "p.Gly650del",
"transcript": "NM_144573.4",
"protein_id": "NP_653174.3",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 675,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334785.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144573.4"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1949_1951delGAG",
"hgvs_p": "p.Gly650del",
"transcript": "ENST00000334785.12",
"protein_id": "ENSP00000333938.7",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 675,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144573.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334785.12"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1646_1648delGAG",
"hgvs_p": "p.Gly549del",
"transcript": "ENST00000342754.5",
"protein_id": "ENSP00000343928.5",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 575,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342754.5"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1949_1951delGAG",
"hgvs_p": "p.Gly650del",
"transcript": "ENST00000951152.1",
"protein_id": "ENSP00000621211.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 675,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951152.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1757_1759delGAG",
"hgvs_p": "p.Gly586del",
"transcript": "NM_001172309.2",
"protein_id": "NP_001165780.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 611,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172309.2"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1757_1759delGAG",
"hgvs_p": "p.Gly586del",
"transcript": "ENST00000330010.12",
"protein_id": "ENSP00000327363.8",
"transcript_support_level": 2,
"aa_start": 586,
"aa_end": null,
"aa_length": 611,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330010.12"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1751_1753delGAG",
"hgvs_p": "p.Gly584del",
"transcript": "ENST00000902269.1",
"protein_id": "ENSP00000572328.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 609,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902269.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1715_1717delGAG",
"hgvs_p": "p.Gly572del",
"transcript": "ENST00000927424.1",
"protein_id": "ENSP00000597483.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927424.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1559_1561delGAG",
"hgvs_p": "p.Gly520del",
"transcript": "ENST00000902267.1",
"protein_id": "ENSP00000572326.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 545,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902267.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1532_1534delGAG",
"hgvs_p": "p.Gly511del",
"transcript": "ENST00000851033.1",
"protein_id": "ENSP00000521102.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 537,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851033.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1493_1495delGAG",
"hgvs_p": "p.Gly498del",
"transcript": "ENST00000902268.1",
"protein_id": "ENSP00000572327.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 523,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902268.1"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1949_1951delGAG",
"hgvs_p": "p.Gly650del",
"transcript": "XM_005271322.5",
"protein_id": "XP_005271379.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 676,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271322.5"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1907_1909delGAG",
"hgvs_p": "p.Gly636del",
"transcript": "XM_005271323.5",
"protein_id": "XP_005271380.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 662,
"cds_start": 1907,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271323.5"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1757_1759delGAG",
"hgvs_p": "p.Gly586del",
"transcript": "XM_005271324.6",
"protein_id": "XP_005271381.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 612,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271324.6"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1727_1729delGAG",
"hgvs_p": "p.Gly576del",
"transcript": "XM_005271325.5",
"protein_id": "XP_005271382.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 602,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271325.5"
},
{
"aa_ref": "GE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.1532_1534delGAG",
"hgvs_p": "p.Gly511del",
"transcript": "XM_005271327.5",
"protein_id": "XP_005271384.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 537,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271327.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "n.788_790delGAG",
"hgvs_p": null,
"transcript": "ENST00000470735.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "n.1523_1525delGAG",
"hgvs_p": null,
"transcript": "ENST00000480732.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480732.2"
}
],
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"dbsnp": "rs397517853",
"frequency_reference_population": 0.000104112056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 168,
"gnomad_exomes_af": 0.000106054,
"gnomad_genomes_af": 0.0000854521,
"gnomad_exomes_ac": 155,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.609,
"phylop100way_prediction": "Pathogenic",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BS1,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_144573.4",
"gene_symbol": "NEXN",
"hgnc_id": 29557,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1949_1951delGAG",
"hgvs_p": "p.Gly650del"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1CC,Hypertrophic cardiomyopathy 20,NEXN-related disorder,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:10",
"phenotype_combined": "not specified|Cardiovascular phenotype|Dilated cardiomyopathy 1CC;Hypertrophic cardiomyopathy 20|not provided|Cardiomyopathy|Dilated cardiomyopathy 1CC|NEXN-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}