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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: 5-66054546-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66054546&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 66054546,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000284037.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "NM_001253697.2",
"protein_id": "NP_001240626.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8544,
"mane_select": "ENST00000284037.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000284037.10",
"protein_id": "ENSP00000284037.4",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8544,
"mane_select": "NM_001253697.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000506030.6",
"protein_id": "ENSP00000426632.1",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000380943.6",
"protein_id": "ENSP00000370330.2",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3536,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "NM_001253699.2",
"protein_id": "NP_001240628.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3216A>G",
"hgvs_p": "p.Arg1072Arg",
"transcript": "ENST00000699005.1",
"protein_id": "ENSP00000514083.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 6420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "NM_018695.4",
"protein_id": "NP_061165.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000699000.1",
"protein_id": "ENSP00000514078.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 7356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.2958A>G",
"hgvs_p": "p.Arg986Arg",
"transcript": "ENST00000511671.6",
"protein_id": "ENSP00000425728.2",
"transcript_support_level": 3,
"aa_start": 986,
"aa_end": null,
"aa_length": 1370,
"cds_start": 2958,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 2960,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3216A>G",
"hgvs_p": "p.Arg1072Arg",
"transcript": "NM_001253701.2",
"protein_id": "NP_001240630.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3216A>G",
"hgvs_p": "p.Arg1072Arg",
"transcript": "ENST00000511297.5",
"protein_id": "ENSP00000422766.1",
"transcript_support_level": 5,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000699007.1",
"protein_id": "ENSP00000514085.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "NM_001253698.2",
"protein_id": "NP_001240627.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000380938.6",
"protein_id": "ENSP00000370325.2",
"transcript_support_level": 2,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3228,
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"cdna_start": 3482,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000699009.1",
"protein_id": "ENSP00000514087.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000699008.1",
"protein_id": "ENSP00000514086.1",
"transcript_support_level": null,
"aa_start": 1076,
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"cds_start": 3228,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "NM_001006600.3",
"protein_id": "NP_001006600.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000508515.2",
"protein_id": "ENSP00000422015.1",
"transcript_support_level": 5,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3511,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "ENST00000699001.1",
"protein_id": "ENSP00000514079.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3216A>G",
"hgvs_p": "p.Arg1072Arg",
"transcript": "ENST00000699010.1",
"protein_id": "ENSP00000514089.1",
"transcript_support_level": null,
"aa_start": 1072,
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"aa_length": 1298,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.2553A>G",
"hgvs_p": "p.Arg851Arg",
"transcript": "ENST00000699004.1",
"protein_id": "ENSP00000514082.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2553,
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"cds_length": 3585,
"cdna_start": 2787,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg",
"transcript": "XM_005248554.4",
"protein_id": "XP_005248611.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Arg1076Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}