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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: 12-132632318-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132632318&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132632318,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000320574.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.6327C>T",
"hgvs_p": "p.Cys2109Cys",
"transcript": "NM_006231.4",
"protein_id": "NP_006222.2",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2286,
"cds_start": 6327,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 6354,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "ENST00000320574.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.6327C>T",
"hgvs_p": "p.Cys2109Cys",
"transcript": "ENST00000320574.10",
"protein_id": "ENSP00000322570.5",
"transcript_support_level": 1,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2286,
"cds_start": 6327,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 6354,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "NM_006231.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.6246C>T",
"hgvs_p": "p.Cys2082Cys",
"transcript": "ENST00000535270.5",
"protein_id": "ENSP00000445753.1",
"transcript_support_level": 1,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2259,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 6800,
"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": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*6078C>T",
"hgvs_p": null,
"transcript": "ENST00000537064.5",
"protein_id": "ENSP00000442578.1",
"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": 8011,
"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": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*6078C>T",
"hgvs_p": null,
"transcript": "ENST00000537064.5",
"protein_id": "ENSP00000442578.1",
"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": 8011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.6327C>T",
"hgvs_p": "p.Cys2109Cys",
"transcript": "XM_011534795.4",
"protein_id": "XP_011533097.1",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2298,
"cds_start": 6327,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 6354,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.5406C>T",
"hgvs_p": "p.Cys1802Cys",
"transcript": "XM_011534797.4",
"protein_id": "XP_011533099.1",
"transcript_support_level": null,
"aa_start": 1802,
"aa_end": null,
"aa_length": 1991,
"cds_start": 5406,
"cds_end": null,
"cds_length": 5976,
"cdna_start": 5500,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3315C>T",
"hgvs_p": "p.Cys1105Cys",
"transcript": "XM_011534802.4",
"protein_id": "XP_011533104.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 4087,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*1499C>T",
"hgvs_p": null,
"transcript": "ENST00000434528.5",
"protein_id": "ENSP00000500921.1",
"transcript_support_level": 5,
"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": 2406,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*82C>T",
"hgvs_p": null,
"transcript": "ENST00000441786.3",
"protein_id": "ENSP00000480727.1",
"transcript_support_level": 5,
"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": 556,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.240C>T",
"hgvs_p": null,
"transcript": "ENST00000534922.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 567,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.99C>T",
"hgvs_p": null,
"transcript": "ENST00000538196.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 551,
"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": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3053C>T",
"hgvs_p": null,
"transcript": "ENST00000544870.6",
"protein_id": "ENSP00000479927.2",
"transcript_support_level": 3,
"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": 5435,
"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": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3073C>T",
"hgvs_p": null,
"transcript": "ENST00000672002.1",
"protein_id": "ENSP00000500233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5455,
"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": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*6533C>T",
"hgvs_p": null,
"transcript": "ENST00000672742.1",
"protein_id": "ENSP00000500279.1",
"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": 8673,
"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": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.3981C>T",
"hgvs_p": null,
"transcript": "ENST00000699981.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*5297C>T",
"hgvs_p": null,
"transcript": "ENST00000699982.1",
"protein_id": "ENSP00000514736.1",
"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": 7636,
"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": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*6001C>T",
"hgvs_p": null,
"transcript": "ENST00000699983.1",
"protein_id": "ENSP00000514737.1",
"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": 8340,
"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": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*5229C>T",
"hgvs_p": null,
"transcript": "ENST00000699984.1",
"protein_id": "ENSP00000514738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*1499C>T",
"hgvs_p": null,
"transcript": "ENST00000434528.5",
"protein_id": "ENSP00000500921.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*82C>T",
"hgvs_p": null,
"transcript": "ENST00000441786.3",
"protein_id": "ENSP00000480727.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 556,
"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": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3053C>T",
"hgvs_p": null,
"transcript": "ENST00000544870.6",
"protein_id": "ENSP00000479927.2",
"transcript_support_level": 3,
"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": 5435,
"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": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3073C>T",
"hgvs_p": null,
"transcript": "ENST00000672002.1",
"protein_id": "ENSP00000500233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 46,
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"exon_count": 50,
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"transcript": "ENST00000672742.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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"exon_rank": 44,
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"gene_symbol": "POLE",
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"transcript": "ENST00000699982.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "POLE",
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"hgvs_c": "n.*6001C>T",
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"transcript": "ENST00000699983.1",
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},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "POLE",
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"hgvs_c": "n.*5229C>T",
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"transcript": "ENST00000699984.1",
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "POLE",
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"hgvs_c": "n.*190C>T",
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"transcript": "ENST00000544414.1",
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"transcript_support_level": 2,
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"cdna_length": 575,
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}
],
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"dbsnp": "rs371146029",
"frequency_reference_population": 0.0000043392824,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342235,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.248,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000320574.10",
"gene_symbol": "POLE",
"hgnc_id": 9177,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6327C>T",
"hgvs_p": "p.Cys2109Cys"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}