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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: 1-99915422-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99915422&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 99915422,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361915.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "NM_000642.3",
"protein_id": "NP_000633.2",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4318,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "ENST00000361915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "ENST00000361915.8",
"protein_id": "ENSP00000355106.3",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4318,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "NM_000642.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "ENST00000294724.8",
"protein_id": "ENSP00000294724.4",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4673,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "ENST00000370163.7",
"protein_id": "ENSP00000359182.3",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4393,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "ENST00000370165.7",
"protein_id": "ENSP00000359184.3",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4333,
"cdna_end": null,
"cdna_length": 7106,
"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": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*4131A>G",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"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": 7179,
"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": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.4406A>G",
"hgvs_p": null,
"transcript": "ENST00000637337.1",
"protein_id": null,
"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": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*4131A>G",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"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": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "NM_000028.3",
"protein_id": "NP_000019.2",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "NM_000643.3",
"protein_id": "NP_000634.2",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4521,
"cdna_end": null,
"cdna_length": 7294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "NM_000644.3",
"protein_id": "NP_000635.2",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4461,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "NM_001425325.1",
"protein_id": "NP_001412254.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 7031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4174A>G",
"hgvs_p": "p.Lys1392Glu",
"transcript": "NM_001425326.1",
"protein_id": "NP_001412255.1",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4174,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4297,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4147A>G",
"hgvs_p": "p.Lys1383Glu",
"transcript": "NM_000646.3",
"protein_id": "NP_000637.2",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 1516,
"cds_start": 4147,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 4461,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4147A>G",
"hgvs_p": "p.Lys1383Glu",
"transcript": "ENST00000370161.6",
"protein_id": "ENSP00000359180.2",
"transcript_support_level": 5,
"aa_start": 1383,
"aa_end": null,
"aa_length": 1516,
"cds_start": 4147,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 4147,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3994A>G",
"hgvs_p": "p.Lys1332Glu",
"transcript": "NM_001425327.1",
"protein_id": "NP_001412256.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3994,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3991A>G",
"hgvs_p": "p.Lys1331Glu",
"transcript": "NM_001425328.1",
"protein_id": "NP_001412257.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 4114,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3856A>G",
"hgvs_p": "p.Lys1286Glu",
"transcript": "NM_001425329.1",
"protein_id": "NP_001412258.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3856,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3979,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3817A>G",
"hgvs_p": "p.Lys1273Glu",
"transcript": "NM_001425332.1",
"protein_id": "NP_001412261.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3817,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Lys1399Glu",
"transcript": "XM_005270557.3",
"protein_id": "XP_005270614.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 5107,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.2455A>G",
"hgvs_p": "p.Lys819Glu",
"transcript": "XM_017000501.3",
"protein_id": "XP_016855990.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 952,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 5261,
"mane_select": null,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288826",
"gene_hgnc_id": null,
"hgvs_c": "n.488-2205T>C",
"hgvs_p": null,
"transcript": "ENST00000840838.1",
"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": 790,
"mane_select": null,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288826",
"gene_hgnc_id": null,
"hgvs_c": "n.593-2205T>C",
"hgvs_p": null,
"transcript": "ENST00000840839.1",
"protein_id": null,
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"bayesdelnoaf_score": -0.17,
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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},
{
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"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "Glycogen storage disease type III,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Glycogen storage disease type III|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}