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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: 18-5956235-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=5956235&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 5956235,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330559.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "NM_001330559.2",
"protein_id": "NP_001317488.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": "ENST00000317931.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "ENST00000317931.12",
"protein_id": "ENSP00000318543.7",
"transcript_support_level": 5,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": "NM_001330559.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Gln619His",
"transcript": "NM_001365770.2",
"protein_id": "NP_001352699.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 623,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Gln619His",
"transcript": "NM_173464.4",
"protein_id": "NP_775735.2",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 623,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Gln619His",
"transcript": "ENST00000400105.6",
"protein_id": "ENSP00000382976.2",
"transcript_support_level": 2,
"aa_start": 619,
"aa_end": null,
"aa_length": 623,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "NM_001365765.2",
"protein_id": "NP_001352694.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "XM_047437917.1",
"protein_id": "XP_047293873.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "XM_047437918.1",
"protein_id": "XP_047293874.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 4267,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1830A>T",
"hgvs_p": "p.Gln610His",
"transcript": "XM_047437919.1",
"protein_id": "XP_047293875.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gln570His",
"transcript": "XM_017026074.2",
"protein_id": "XP_016881563.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 574,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3429,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "n.1960A>T",
"hgvs_p": null,
"transcript": "NR_158609.2",
"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": 3478,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "n.1868A>T",
"hgvs_p": null,
"transcript": "NR_158610.2",
"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": 3386,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "n.4104A>T",
"hgvs_p": null,
"transcript": "NR_158611.2",
"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": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*122A>T",
"hgvs_p": null,
"transcript": "NM_001365768.2",
"protein_id": "NP_001352697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
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"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*122A>T",
"hgvs_p": null,
"transcript": "NM_001365769.2",
"protein_id": "NP_001352698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_011525757.2",
"protein_id": "XP_011524059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_011525758.2",
"protein_id": "XP_011524060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_011525759.2",
"protein_id": "XP_011524061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_047437914.1",
"protein_id": "XP_047293870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_047437915.1",
"protein_id": "XP_047293871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
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"cdna_length": 6284,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_047437916.1",
"protein_id": "XP_047293872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*22A>T",
"hgvs_p": null,
"transcript": "XM_011525760.2",
"protein_id": "XP_011524062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.*122A>T",
"hgvs_p": null,
"transcript": "XM_047437920.1",
"protein_id": "XP_047293876.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
],
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{
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],
"verdict": "Uncertain_significance",
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],
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},
{
"score": 0,
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"verdict": "Uncertain_significance",
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],
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000659442.1",
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"effects": [
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],
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},
{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000659662.1",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}