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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-TTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111598978&ref=T&alt=TTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111598978,
"ref": "T",
"alt": "TTGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000673436.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "NM_001372574.1",
"protein_id": "NP_001359503.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1155,
"cds_start": 56,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "ENST00000673436.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000673436.1",
"protein_id": "ENSP00000500925.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1155,
"cds_start": 56,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "NM_001372574.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.534_536dupGCA",
"hgvs_p": "p.Gln179dup",
"transcript": "ENST00000550104.5",
"protein_id": "ENSP00000446576.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1313,
"cds_start": 536,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000608853.5",
"protein_id": "ENSP00000476504.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 1153,
"cds_start": 56,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.54_56dupGCA",
"hgvs_p": null,
"transcript": "ENST00000483311.6",
"protein_id": "ENSP00000446512.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4159,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.-65+594_-65+596dupGCA",
"hgvs_p": null,
"transcript": "ENST00000542287.6",
"protein_id": "ENSP00000445583.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3443,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.-28+594_-28+596dupGCA",
"hgvs_p": null,
"transcript": "ENST00000535949.5",
"protein_id": "ENSP00000439338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": -4,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000673449.1",
"protein_id": "ENSP00000500646.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1178,
"cds_start": 56,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000673557.1",
"protein_id": "ENSP00000500766.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1167,
"cds_start": 56,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000643669.2",
"protein_id": "ENSP00000494663.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1166,
"cds_start": 56,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "NM_002973.4",
"protein_id": "NP_002964.4",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1153,
"cds_start": 56,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000672613.1",
"protein_id": "ENSP00000500649.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1153,
"cds_start": 56,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000389153.10",
"protein_id": "ENSP00000373805.6",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 1087,
"cds_start": 56,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000673283.1",
"protein_id": "ENSP00000500313.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1065,
"cds_start": 56,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000647305.1",
"protein_id": "ENSP00000493897.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 968,
"cds_start": 56,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.54_56dupGCA",
"hgvs_p": "p.Gln19dup",
"transcript": "ENST00000644883.1",
"protein_id": "ENSP00000496279.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 957,
"cds_start": 56,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.82_84dupGCA",
"hgvs_p": null,
"transcript": "ENST00000549455.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.54_56dupGCA",
"hgvs_p": null,
"transcript": "ENST00000642389.2",
"protein_id": "ENSP00000496055.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2-AS",
"gene_hgnc_id": 51838,
"hgvs_c": "n.91_93dupCTG",
"hgvs_p": null,
"transcript": "ENST00000726948.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2-AS",
"gene_hgnc_id": 51838,
"hgvs_c": "n.162_164dupCTG",
"hgvs_p": null,
"transcript": "ENST00000726950.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ATXN2-AS",
"gene_hgnc_id": 51838,
"hgvs_c": "n.20_22dupCTG",
"hgvs_p": null,
"transcript": "ENST00000726962.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.335_337dupGCA",
"hgvs_p": null,
"transcript": "NR_132311.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
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],
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"splice_score_selected": null,
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"acmg_by_gene": [
{
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"BS2"
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"verdict": "Likely_benign",
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{
"score": 0,
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],
"inheritance_mode": "",
"hgvs_c": "n.91_93dupCTG",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}