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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: 2-264985-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=264985&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 264985,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000272065.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "NM_004300.4",
"protein_id": "NP_004291.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 158,
"cds_start": 21,
"cds_end": null,
"cds_length": 477,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "ENST00000272065.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "ENST00000272065.10",
"protein_id": "ENSP00000272065.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 158,
"cds_start": 21,
"cds_end": null,
"cds_length": 477,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "NM_004300.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "ENST00000272067.11",
"protein_id": "ENSP00000272067.6",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 158,
"cds_start": 21,
"cds_end": null,
"cds_length": 477,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "ENST00000407983.7",
"protein_id": "ENSP00000385404.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 112,
"cds_start": 21,
"cds_end": null,
"cds_length": 339,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "ENST00000405233.5",
"protein_id": "ENSP00000384307.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 70,
"cds_start": 21,
"cds_end": null,
"cds_length": 213,
"cdna_start": 60,
"cdna_end": null,
"cdna_length": 1149,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.21G>A",
"hgvs_p": null,
"transcript": "ENST00000453390.5",
"protein_id": "ENSP00000411121.1",
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "NM_007099.4",
"protein_id": "NP_009030.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 158,
"cds_start": 21,
"cds_end": null,
"cds_length": 477,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "NM_001040649.3",
"protein_id": "NP_001035739.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 112,
"cds_start": 21,
"cds_end": null,
"cds_length": 339,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Lys7Lys",
"transcript": "ENST00000439645.6",
"protein_id": "ENSP00000408596.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 85,
"cds_start": 21,
"cds_end": null,
"cds_length": 258,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 605,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.21G>A",
"hgvs_p": null,
"transcript": "ENST00000405364.2",
"protein_id": "ENSP00000384184.2",
"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": 414,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.21G>A",
"hgvs_p": null,
"transcript": "ENST00000413140.5",
"protein_id": "ENSP00000410331.1",
"transcript_support_level": 2,
"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": 689,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.21G>A",
"hgvs_p": null,
"transcript": "ENST00000442386.5",
"protein_id": "ENSP00000389681.1",
"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": 546,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000480874.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 732,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.39G>A",
"hgvs_p": null,
"transcript": "NR_024080.2",
"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": 1503,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.105+1309C>T",
"hgvs_p": null,
"transcript": "ENST00000462719.1",
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.-359C>T",
"hgvs_p": null,
"transcript": "ENST00000402632.5",
"protein_id": "ENSP00000384910.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.-242C>T",
"hgvs_p": null,
"transcript": "ENST00000468321.5",
"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": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.-625C>T",
"hgvs_p": null,
"transcript": "NM_001282682.2",
"protein_id": "NP_001269611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.-625C>T",
"hgvs_p": null,
"transcript": "ENST00000403658.5",
"protein_id": "ENSP00000383928.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
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"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.-565C>T",
"hgvs_p": null,
"transcript": "ENST00000454318.1",
"protein_id": "ENSP00000415723.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": -4,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.-517C>T",
"hgvs_p": null,
"transcript": "ENST00000415368.5",
"protein_id": "ENSP00000410235.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.-175C>T",
"hgvs_p": null,
"transcript": "ENST00000465733.5",
"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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.-175C>T",
"hgvs_p": null,
"transcript": "ENST00000472861.1",
"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": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": false,
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],
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{
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"BP4_Moderate",
"BP7"
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"verdict": "Likely_benign",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}