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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: 1-99916481-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99916481&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 99916481,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361915.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "NM_000642.3",
"protein_id": "NP_000633.2",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "ENST00000361915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "ENST00000361915.8",
"protein_id": "ENSP00000355106.3",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "NM_000642.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "ENST00000294724.8",
"protein_id": "ENSP00000294724.4",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4809,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "ENST00000370163.7",
"protein_id": "ENSP00000359182.3",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4529,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "ENST00000370165.7",
"protein_id": "ENSP00000359184.3",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4469,
"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": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*4267A>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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.4542A>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": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*4267A>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "NM_000028.3",
"protein_id": "NP_000019.2",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4677,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "NM_000643.3",
"protein_id": "NP_000634.2",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4657,
"cdna_end": null,
"cdna_length": 7294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "NM_000644.3",
"protein_id": "NP_000635.2",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "NM_001425325.1",
"protein_id": "NP_001412254.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4394,
"cdna_end": null,
"cdna_length": 7031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4310A>G",
"hgvs_p": "p.Asn1437Ser",
"transcript": "NM_001425326.1",
"protein_id": "NP_001412255.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4310,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4283A>G",
"hgvs_p": "p.Asn1428Ser",
"transcript": "NM_000646.3",
"protein_id": "NP_000637.2",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1516,
"cds_start": 4283,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4283A>G",
"hgvs_p": "p.Asn1428Ser",
"transcript": "ENST00000370161.6",
"protein_id": "ENSP00000359180.2",
"transcript_support_level": 5,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1516,
"cds_start": 4283,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 4283,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4130A>G",
"hgvs_p": "p.Asn1377Ser",
"transcript": "NM_001425327.1",
"protein_id": "NP_001412256.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4130,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asn1376Ser",
"transcript": "NM_001425328.1",
"protein_id": "NP_001412257.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4127,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3992A>G",
"hgvs_p": "p.Asn1331Ser",
"transcript": "NM_001425329.1",
"protein_id": "NP_001412258.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3992,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3953A>G",
"hgvs_p": "p.Asn1318Ser",
"transcript": "NM_001425332.1",
"protein_id": "NP_001412261.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4076,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.4331A>G",
"hgvs_p": "p.Asn1444Ser",
"transcript": "XM_005270557.3",
"protein_id": "XP_005270614.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4331,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 5243,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.2591A>G",
"hgvs_p": "p.Asn864Ser",
"transcript": "XM_017000501.3",
"protein_id": "XP_016855990.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 952,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2621,
"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.488-3264T>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.593-3264T>C",
"hgvs_p": null,
"transcript": "ENST00000840839.1",
"protein_id": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.16,
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{
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"BP6",
"BS1",
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"verdict": "Benign",
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{
"score": -7,
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"verdict": "Benign",
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"effects": [
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{
"score": -7,
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"verdict": "Benign",
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}
],
"clinvar_disease": "AGL-related disorder,Glycogen storage disease type III,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "not provided|Glycogen storage disease type III|AGL-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}