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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: 1-150560836-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150560836&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150560836,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001288608.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "NM_019032.6",
"protein_id": "NP_061905.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271643.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019032.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000271643.9",
"protein_id": "ENSP00000271643.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019032.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271643.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000369038.6",
"protein_id": "ENSP00000358034.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369038.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "NM_001288608.2",
"protein_id": "NP_001275537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288608.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000369039.9",
"protein_id": "ENSP00000358035.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369039.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886073.1",
"protein_id": "ENSP00000556132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "NM_001378596.1",
"protein_id": "NP_001365525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886069.1",
"protein_id": "ENSP00000556128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886070.1",
"protein_id": "ENSP00000556129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886071.1",
"protein_id": "ENSP00000556130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
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"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886074.1",
"protein_id": "ENSP00000556133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886074.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "ENST00000886075.1",
"protein_id": "ENSP00000556134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
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"cds_length": 3207,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886075.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "NM_001288607.2",
"protein_id": "NP_001275536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288607.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
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"hgvs_c": "c.*640C>A",
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"transcript": "ENST00000886072.1",
"protein_id": "ENSP00000556131.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886072.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_011509644.4",
"protein_id": "XP_011507946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509644.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_047422819.1",
"protein_id": "XP_047278775.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422819.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_011509648.4",
"protein_id": "XP_011507950.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1097,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509648.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_017001506.3",
"protein_id": "XP_016856995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001506.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
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"transcript": "XM_047422820.1",
"protein_id": "XP_047278776.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_047422823.1",
"protein_id": "XP_047278779.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_047422823.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_047422824.1",
"protein_id": "XP_047278780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.*640C>A",
"hgvs_p": null,
"transcript": "XM_047422830.1",
"protein_id": "XP_047278786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
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"cds_length": 3225,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422830.1"
},
{
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"aa_alt": null,
"canonical": false,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.84,
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"phylop100way_prediction": "Benign",
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"acmg_score": -4,
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"acmg_by_gene": [
{
"score": -4,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_001288608.2",
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{
"score": -4,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000615012.1",
"gene_symbol": "ADAMTSL4-AS1",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.1280G>T",
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},
{
"score": -8,
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"BS2"
],
"verdict": "Benign",
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": " autosomal recessive, isolated,Ectopia lentis 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Ectopia lentis 2, isolated, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}