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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: 17-82209113-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82209113&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82209113,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000694881.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-9+3672C>A",
"hgvs_p": null,
"transcript": "NM_001394669.1",
"protein_id": "NP_001381598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "ENST00000694881.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-9+3672C>A",
"hgvs_p": null,
"transcript": "ENST00000694881.1",
"protein_id": "ENSP00000511565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "NM_001394669.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-326-1065C>A",
"hgvs_p": null,
"transcript": "ENST00000392343.3",
"protein_id": "ENSP00000376154.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_047435765.1",
"protein_id": "XP_047291721.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1196,
"cds_start": 19,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_017024462.3",
"protein_id": "XP_016879951.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1184,
"cds_start": 19,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_017024463.3",
"protein_id": "XP_016879952.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1134,
"cds_start": 19,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_017024464.3",
"protein_id": "XP_016879953.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1122,
"cds_start": 19,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_047435769.1",
"protein_id": "XP_047291725.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1117,
"cds_start": 19,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_047435770.1",
"protein_id": "XP_047291726.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1105,
"cds_start": 19,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_017024473.2",
"protein_id": "XP_016879962.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 920,
"cds_start": 19,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_017024474.3",
"protein_id": "XP_016879963.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 915,
"cds_start": 19,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.19C>A",
"hgvs_p": "p.Arg7Arg",
"transcript": "XM_047435776.1",
"protein_id": "XP_047291732.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 908,
"cds_start": 19,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 2985,
"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": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "n.85C>A",
"hgvs_p": null,
"transcript": "XR_001752485.3",
"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": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-1758C>A",
"hgvs_p": null,
"transcript": "XM_047435767.1",
"protein_id": "XP_047291723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-326-1065C>A",
"hgvs_p": null,
"transcript": "NM_001394670.1",
"protein_id": "NP_001381599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
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"cds_length": 3084,
"cdna_start": null,
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"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-210-1065C>A",
"hgvs_p": null,
"transcript": "ENST00000665763.1",
"protein_id": "ENSP00000499556.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-9+3672C>A",
"hgvs_p": null,
"transcript": "NM_198082.4",
"protein_id": "NP_932348.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-9+3672C>A",
"hgvs_p": null,
"transcript": "ENST00000389641.9",
"protein_id": "ENSP00000374292.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
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"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-326-1065C>A",
"hgvs_p": null,
"transcript": "NM_001316321.3",
"protein_id": "NP_001303250.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "c.-1339+3672C>A",
"hgvs_p": null,
"transcript": "NM_001367828.2",
"protein_id": "NP_001354757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "n.95-1065C>A",
"hgvs_p": null,
"transcript": "ENST00000578910.2",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "n.52-1065C>A",
"hgvs_p": null,
"transcript": "ENST00000582885.1",
"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": 537,
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC57",
"gene_hgnc_id": 27564,
"hgvs_c": "n.-9+3672C>A",
"hgvs_p": null,
"transcript": "ENST00000694882.1",
"protein_id": "ENSP00000511566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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