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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: 12-111598978-T-TTGCTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111598978&ref=T&alt=TTGCTGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP3",
"BS2"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "ATXN2",
"hgnc_id": 10555,
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001372574.1",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ATXN2-AS",
"hgnc_id": 51838,
"hgvs_c": "n.88_93dupCTGCTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000726948.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_score": -5,
"allele_count_reference_population": 154,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTGCTGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"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": "QQQ",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3468,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001372574.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000673436.1",
"protein_coding": true,
"protein_id": "NP_001359503.1",
"strand": false,
"transcript": "NM_001372574.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3468,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673436.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001372574.1",
"protein_coding": true,
"protein_id": "ENSP00000500925.1",
"strand": false,
"transcript": "ENST00000673436.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1313,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 698,
"cds_end": null,
"cds_length": 3942,
"cds_start": 536,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000550104.5",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.531_536dupGCAGCA",
"hgvs_p": "p.Gln178_Gln179dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446576.2",
"strand": false,
"transcript": "ENST00000550104.5",
"transcript_support_level": 1
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 372,
"cds_end": null,
"cds_length": 3462,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000608853.5",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476504.1",
"strand": false,
"transcript": "ENST00000608853.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1073,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": null,
"cds_end": null,
"cds_length": 3222,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542287.6",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.-65+591_-65+596dupGCAGCA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445583.2",
"strand": false,
"transcript": "ENST00000542287.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1006,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": null,
"cds_end": null,
"cds_length": 3021,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535949.5",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.-28+591_-28+596dupGCAGCA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439338.1",
"strand": false,
"transcript": "ENST00000535949.5",
"transcript_support_level": 1
},
{
"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": 4159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000483311.6",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "n.51_56dupGCAGCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446512.2",
"strand": false,
"transcript": "ENST00000483311.6",
"transcript_support_level": 1
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 342,
"cds_end": null,
"cds_length": 3573,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000918152.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588211.1",
"strand": false,
"transcript": "ENST00000918152.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 109,
"cds_end": null,
"cds_length": 3543,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890909.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560968.1",
"strand": false,
"transcript": "ENST00000890909.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 144,
"cds_end": null,
"cds_length": 3537,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673449.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500646.1",
"strand": false,
"transcript": "ENST00000673449.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 310,
"cds_end": null,
"cds_length": 3537,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890906.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560965.1",
"strand": false,
"transcript": "ENST00000890906.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": 128,
"cds_end": null,
"cds_length": 3531,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890911.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560970.1",
"strand": false,
"transcript": "ENST00000890911.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 148,
"cds_end": null,
"cds_length": 3504,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673557.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500766.1",
"strand": false,
"transcript": "ENST00000673557.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3501,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000643669.2",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494663.1",
"strand": false,
"transcript": "ENST00000643669.2",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 330,
"cds_end": null,
"cds_length": 3498,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890900.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560959.1",
"strand": false,
"transcript": "ENST00000890900.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 320,
"cds_end": null,
"cds_length": 3495,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890901.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560960.1",
"strand": false,
"transcript": "ENST00000890901.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 310,
"cds_end": null,
"cds_length": 3483,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890904.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560963.1",
"strand": false,
"transcript": "ENST00000890904.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3462,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_002973.4",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002964.4",
"strand": false,
"transcript": "NM_002973.4",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3462,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000672613.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
"hgvs_p": "p.Gln18_Gln19dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500649.1",
"strand": false,
"transcript": "ENST00000672613.1",
"transcript_support_level": null
},
{
"aa_alt": "QQQ",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3447,
"cds_start": 56,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000890899.1",
"gene_hgnc_id": 10555,
"gene_symbol": "ATXN2",
"hgvs_c": "c.51_56dupGCAGCA",
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