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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: 15-76351235-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76351235&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76351235,
"ref": "A",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001353009.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4099+2T>C",
"hgvs_p": null,
"transcript": "NM_020843.4",
"protein_id": "NP_065894.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000563290.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020843.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4099+2T>C",
"hgvs_p": null,
"transcript": "ENST00000563290.6",
"protein_id": "ENSP00000454973.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020843.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563290.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4099+2T>C",
"hgvs_p": null,
"transcript": "ENST00000324767.11",
"protein_id": "ENSP00000326924.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324767.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3361+2T>C",
"hgvs_p": null,
"transcript": "ENST00000538941.6",
"protein_id": "ENSP00000442190.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": null,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538941.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4117+2T>C",
"hgvs_p": null,
"transcript": "NM_001353009.2",
"protein_id": "NP_001339938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1406,
"cds_start": null,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353009.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4117+2T>C",
"hgvs_p": null,
"transcript": "ENST00000867409.1",
"protein_id": "ENSP00000537468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1406,
"cds_start": null,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4117+2T>C",
"hgvs_p": null,
"transcript": "ENST00000940731.1",
"protein_id": "ENSP00000610790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1406,
"cds_start": null,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4069+2T>C",
"hgvs_p": null,
"transcript": "ENST00000867408.1",
"protein_id": "ENSP00000537467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": null,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4033+2T>C",
"hgvs_p": null,
"transcript": "ENST00000969238.1",
"protein_id": "ENSP00000639297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1378,
"cds_start": null,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3943+2T>C",
"hgvs_p": null,
"transcript": "ENST00000969239.1",
"protein_id": "ENSP00000639298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": null,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3919+2T>C",
"hgvs_p": null,
"transcript": "ENST00000867407.1",
"protein_id": "ENSP00000537466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1340,
"cds_start": null,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3910+2T>C",
"hgvs_p": null,
"transcript": "ENST00000969236.1",
"protein_id": "ENSP00000639295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": null,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3715+2T>C",
"hgvs_p": null,
"transcript": "NM_001353011.2",
"protein_id": "NP_001339940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1272,
"cds_start": null,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353011.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3697+2T>C",
"hgvs_p": null,
"transcript": "NM_001353010.2",
"protein_id": "NP_001339939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": null,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353010.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3697+2T>C",
"hgvs_p": null,
"transcript": "NM_001353012.2",
"protein_id": "NP_001339941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": null,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353012.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3652+2T>C",
"hgvs_p": null,
"transcript": "ENST00000940730.1",
"protein_id": "ENSP00000610789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": null,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3361+2T>C",
"hgvs_p": null,
"transcript": "NM_001145923.2",
"protein_id": "NP_001139395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": null,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145923.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2626+2T>C",
"hgvs_p": null,
"transcript": "ENST00000969237.1",
"protein_id": "ENSP00000639296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4192+2T>C",
"hgvs_p": null,
"transcript": "XM_047432620.1",
"protein_id": "XP_047288576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1431,
"cds_start": null,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4174+2T>C",
"hgvs_p": null,
"transcript": "XM_047432621.1",
"protein_id": "XP_047288577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4069+2T>C",
"hgvs_p": null,
"transcript": "XM_047432622.1",
"protein_id": "XP_047288578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": null,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4051+2T>C",
"hgvs_p": null,
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"phenotype_combined": "Inborn genetic diseases",
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}
],
"message": null
}