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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: 17-75522039-CC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75522039&ref=CC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TSEN54",
"hgnc_id": 27561,
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_207346.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1581,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_207346.3",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333213.11",
"protein_coding": true,
"protein_id": "NP_997229.2",
"strand": true,
"transcript": "NM_207346.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1581,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333213.11",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207346.3",
"protein_coding": true,
"protein_id": "ENSP00000327487.6",
"strand": true,
"transcript": "ENST00000333213.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1794,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680999.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504984.1",
"strand": true,
"transcript": "ENST00000680999.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 578,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1737,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915433.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585492.1",
"strand": true,
"transcript": "ENST00000915433.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884602.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1087_1088delCCinsAG",
"hgvs_p": "p.Pro363Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554661.1",
"strand": true,
"transcript": "ENST00000884602.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 562,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1689,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545228.3",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438169.3",
"strand": true,
"transcript": "ENST00000545228.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1629,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915436.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.793_794delCCinsAG",
"hgvs_p": "p.Pro265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585495.1",
"strand": true,
"transcript": "ENST00000915436.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "P",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1548,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947129.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.925_926delCCinsAG",
"hgvs_p": "p.Pro309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617188.1",
"strand": true,
"transcript": "ENST00000947129.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 511,
"aa_ref": "P",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1536,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884603.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.913_914delCCinsAG",
"hgvs_p": "p.Pro305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554662.1",
"strand": true,
"transcript": "ENST00000884603.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1470,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884604.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554663.1",
"strand": true,
"transcript": "ENST00000884604.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1464,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884601.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.958_959delCCinsAG",
"hgvs_p": "p.Pro320Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554660.1",
"strand": true,
"transcript": "ENST00000884601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 432,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1299,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915434.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.793_794delCCinsAG",
"hgvs_p": "p.Pro265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585493.1",
"strand": true,
"transcript": "ENST00000915434.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1278,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434205.8",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.655_656delCCinsAG",
"hgvs_p": "p.Pro219Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406559.4",
"strand": true,
"transcript": "ENST00000434205.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "P",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1275,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947128.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.652_653delCCinsAG",
"hgvs_p": "p.Pro218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617187.1",
"strand": true,
"transcript": "ENST00000947128.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915435.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.895+84_895+85delCCinsAG",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585494.1",
"strand": true,
"transcript": "ENST00000915435.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 400,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": null,
"cds_end": null,
"cds_length": 1203,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915432.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.874+84_874+85delCCinsAG",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585491.1",
"strand": true,
"transcript": "ENST00000915432.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000578415.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.918_919delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578415.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000579449.2",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.757_758delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000579449.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000580013.6",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.1161_1162delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000580013.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 798,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000583173.5",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.491_492delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463619.1",
"strand": true,
"transcript": "ENST00000583173.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679370.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.1539_1540delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
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