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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: 2-159324864-AAC-GAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159324864&ref=AAC&alt=GAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BAZ2B",
"hgnc_id": 963,
"hgvs_c": "c.6298_6300delGTTinsATC",
"hgvs_p": "p.Val2100Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_013450.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "I",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "V",
"aa_start": 2100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8145,
"cdna_start": 6652,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6298,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013450.4",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6298_6300delGTTinsATC",
"hgvs_p": "p.Val2100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392783.7",
"protein_coding": true,
"protein_id": "NP_038478.2",
"strand": false,
"transcript": "NM_013450.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "V",
"aa_start": 2100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8145,
"cdna_start": 6652,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6298,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392783.7",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6298_6300delGTTinsATC",
"hgvs_p": "p.Val2100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013450.4",
"protein_coding": true,
"protein_id": "ENSP00000376534.2",
"strand": false,
"transcript": "ENST00000392783.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2132,
"aa_ref": "V",
"aa_start": 2064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 6565,
"cds_end": null,
"cds_length": 6399,
"cds_start": 6190,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392782.5",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6190_6192delGTTinsATC",
"hgvs_p": "p.Val2064Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376533.1",
"strand": false,
"transcript": "ENST00000392782.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "V",
"aa_start": 2100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9000,
"cdna_start": 7510,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6298,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911534.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6298_6300delGTTinsATC",
"hgvs_p": "p.Val2100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581593.1",
"strand": false,
"transcript": "ENST00000911534.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "V",
"aa_start": 2100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7878,
"cdna_start": 6458,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6298,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911538.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6298_6300delGTTinsATC",
"hgvs_p": "p.Val2100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581597.1",
"strand": false,
"transcript": "ENST00000911538.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2160,
"aa_ref": "V",
"aa_start": 2064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7026,
"cdna_start": 6565,
"cds_end": null,
"cds_length": 6483,
"cds_start": 6190,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718451.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6190_6192delGTTinsATC",
"hgvs_p": "p.Val2064Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520831.1",
"strand": false,
"transcript": "ENST00000718451.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2149,
"aa_ref": "V",
"aa_start": 2081,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8088,
"cdna_start": 6595,
"cds_end": null,
"cds_length": 6450,
"cds_start": 6241,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329857.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6241_6243delGTTinsATC",
"hgvs_p": "p.Val2081Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316786.1",
"strand": false,
"transcript": "NM_001329857.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2143,
"aa_ref": "V",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 6442,
"cds_end": null,
"cds_length": 6432,
"cds_start": 6223,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329858.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6223_6225delGTTinsATC",
"hgvs_p": "p.Val2075Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316787.1",
"strand": false,
"transcript": "NM_001329858.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2134,
"aa_ref": "V",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8161,
"cdna_start": 6668,
"cds_end": null,
"cds_length": 6405,
"cds_start": 6196,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911535.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6196_6198delGTTinsATC",
"hgvs_p": "p.Val2066Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581594.1",
"strand": false,
"transcript": "ENST00000911535.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2132,
"aa_ref": "V",
"aa_start": 2064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8090,
"cdna_start": 6597,
"cds_end": null,
"cds_length": 6399,
"cds_start": 6190,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289975.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6190_6192delGTTinsATC",
"hgvs_p": "p.Val2064Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276904.1",
"strand": false,
"transcript": "NM_001289975.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "V",
"aa_start": 1968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7646,
"cdna_start": 6156,
"cds_end": null,
"cds_length": 6111,
"cds_start": 5902,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911537.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.5902_5904delGTTinsATC",
"hgvs_p": "p.Val1968Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581596.1",
"strand": false,
"transcript": "ENST00000911537.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1980,
"aa_ref": "V",
"aa_start": 1912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 5990,
"cds_end": null,
"cds_length": 5943,
"cds_start": 5734,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911536.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.5734_5736delGTTinsATC",
"hgvs_p": "p.Val1912Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581595.1",
"strand": false,
"transcript": "ENST00000911536.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "V",
"aa_start": 2152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7872,
"cdna_start": 7411,
"cds_end": null,
"cds_length": 6747,
"cds_start": 6454,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444037.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6454_6456delGTTinsATC",
"hgvs_p": "p.Val2152Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299993.1",
"strand": false,
"transcript": "XM_047444037.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7116,
"cdna_start": 6655,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246488.3",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246545.2",
"strand": false,
"transcript": "XM_005246488.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7027,
"cdna_start": 6566,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246489.5",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246546.2",
"strand": false,
"transcript": "XM_005246489.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 7500,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003920.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859409.1",
"strand": false,
"transcript": "XM_017003920.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7853,
"cdna_start": 7392,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444038.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299994.1",
"strand": false,
"transcript": "XM_047444038.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7856,
"cdna_start": 7395,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444039.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299995.1",
"strand": false,
"transcript": "XM_047444039.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7753,
"cdna_start": 7292,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444040.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299996.1",
"strand": false,
"transcript": "XM_047444040.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7856,
"cdna_start": 7395,
"cds_end": null,
"cds_length": 6729,
"cds_start": 6436,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444041.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.6436_6438delGTTinsATC",
"hgvs_p": "p.Val2146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299997.1",
"strand": false,
"transcript": "XM_047444041.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "V",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7859,
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