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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: 10-92479610-A-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92479610&ref=A&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92479610,
"ref": "A",
"alt": "AGT",
"effect": "intron_variant",
"transcript": "ENST00000265986.11",
"consequences": [
{
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "NM_004969.4",
"protein_id": "NP_004960.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": "ENST00000265986.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000265986.11",
"protein_id": "ENSP00000265986.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": "NM_004969.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "n.*2074-191_*2074-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000478361.6",
"protein_id": "ENSP00000473506.1",
"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": 3198,
"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": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "n.3121_3122dupAC",
"hgvs_p": null,
"transcript": "ENST00000679069.1",
"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": 6804,
"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": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "n.*1596_*1597dupAC",
"hgvs_p": null,
"transcript": "ENST00000679232.1",
"protein_id": "ENSP00000503818.1",
"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": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "n.*1596_*1597dupAC",
"hgvs_p": null,
"transcript": "ENST00000679232.1",
"protein_id": "ENSP00000503818.1",
"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": 6700,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-823_1740-822dupAC",
"hgvs_p": null,
"transcript": "NM_001322793.2",
"protein_id": "NP_001309722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5894,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-823_1740-822dupAC",
"hgvs_p": null,
"transcript": "ENST00000650060.2",
"protein_id": "ENSP00000497272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5894,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000676540.1",
"protein_id": "ENSP00000504633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5252,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1623-191_1623-190dupAC",
"hgvs_p": null,
"transcript": "NM_001322794.2",
"protein_id": "NP_001309723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5777,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1617-191_1617-190dupAC",
"hgvs_p": null,
"transcript": "NM_001322795.2",
"protein_id": "NP_001309724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6076,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1617-191_1617-190dupAC",
"hgvs_p": null,
"transcript": "NM_001322796.1",
"protein_id": "NP_001309725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
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"cds_length": 2937,
"cdna_start": null,
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"cdna_length": 6060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1617-823_1617-822dupAC",
"hgvs_p": null,
"transcript": "NM_001410974.1",
"protein_id": "NP_001397903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6076,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1617-823_1617-822dupAC",
"hgvs_p": null,
"transcript": "ENST00000678715.1",
"protein_id": "ENSP00000503025.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
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"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000677079.1",
"protein_id": "ENSP00000503417.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000679089.1",
"protein_id": "ENSP00000504067.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1740-191_1740-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000678673.1",
"protein_id": "ENSP00000503082.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.75-191_75-190dupAC",
"hgvs_p": null,
"transcript": "NM_001165946.2",
"protein_id": "NP_001159418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.75-823_75-822dupAC",
"hgvs_p": null,
"transcript": "NM_001322797.2",
"protein_id": "NP_001309726.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "IDE",
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"hgvs_c": "c.75-191_75-190dupAC",
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"transcript": "ENST00000371581.9",
"protein_id": "ENSP00000360637.5",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IDE",
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"hgvs_c": "c.75-823_75-822dupAC",
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"transcript": "ENST00000496903.5",
"protein_id": "ENSP00000504053.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.-34-191_-34-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000678824.1",
"protein_id": "ENSP00000503571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
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"cds_length": 1287,
"cdna_start": null,
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"cdna_length": 2753,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "n.2481-191_2481-190dupAC",
"hgvs_p": null,
"transcript": "ENST00000676626.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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{
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{
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{
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],
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.809,
"phylop100way_prediction": "Benign",
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"dbscsnv_ada_score": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Benign",
"transcript": "ENST00000265986.11",
"gene_symbol": "IDE",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}