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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: 15-72349093-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72349093&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72349093,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000268097.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Val324Val",
"transcript": "NM_000520.6",
"protein_id": "NP_000511.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 529,
"cds_start": 972,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": "ENST00000268097.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Val324Val",
"transcript": "ENST00000268097.10",
"protein_id": "ENSP00000268097.6",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 529,
"cds_start": 972,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": "NM_000520.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Val324Val",
"transcript": "ENST00000567159.5",
"protein_id": "ENSP00000456489.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 509,
"cds_start": 972,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260729",
"gene_hgnc_id": null,
"hgvs_c": "n.413-2768T>A",
"hgvs_p": null,
"transcript": "ENST00000379915.4",
"protein_id": "ENSP00000478716.1",
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261460",
"gene_hgnc_id": 58304,
"hgvs_c": "n.1578-1131A>T",
"hgvs_p": null,
"transcript": "ENST00000570175.1",
"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": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1005T>A",
"hgvs_p": "p.Val335Val",
"transcript": "NM_001318825.2",
"protein_id": "NP_001305754.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 540,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1005T>A",
"hgvs_p": "p.Val335Val",
"transcript": "ENST00000566304.5",
"protein_id": "ENSP00000455114.1",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 540,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Val324Val",
"transcript": "ENST00000684520.1",
"protein_id": "ENSP00000506826.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 474,
"cds_start": 972,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Val324Val",
"transcript": "ENST00000683884.1",
"protein_id": "ENSP00000507004.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 390,
"cds_start": 972,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2233,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.3318T>A",
"hgvs_p": null,
"transcript": "ENST00000563908.2",
"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": 3458,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*382T>A",
"hgvs_p": null,
"transcript": "ENST00000566672.5",
"protein_id": "ENSP00000457037.1",
"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": 1397,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.972T>A",
"hgvs_p": null,
"transcript": "ENST00000567027.6",
"protein_id": "ENSP00000457521.2",
"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": 1512,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*493T>A",
"hgvs_p": null,
"transcript": "ENST00000567411.5",
"protein_id": "ENSP00000455545.1",
"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": 1743,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.6376T>A",
"hgvs_p": null,
"transcript": "ENST00000568777.5",
"protein_id": null,
"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": 6909,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.972T>A",
"hgvs_p": null,
"transcript": "ENST00000569410.5",
"protein_id": "ENSP00000457125.1",
"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": 1351,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*634T>A",
"hgvs_p": null,
"transcript": "ENST00000682061.1",
"protein_id": "ENSP00000508316.1",
"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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"cdna_length": 2493,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*241T>A",
"hgvs_p": null,
"transcript": "ENST00000682177.1",
"protein_id": "ENSP00000507409.1",
"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": 1754,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*712T>A",
"hgvs_p": null,
"transcript": "ENST00000682461.1",
"protein_id": "ENSP00000507308.1",
"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": 2319,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.1003T>A",
"hgvs_p": null,
"transcript": "ENST00000682653.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 4520,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*382T>A",
"hgvs_p": null,
"transcript": "ENST00000682657.1",
"protein_id": "ENSP00000507753.1",
"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,
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"cdna_length": 1857,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*775T>A",
"hgvs_p": null,
"transcript": "ENST00000682721.1",
"protein_id": "ENSP00000507535.1",
"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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"cdna_length": 2322,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*870T>A",
"hgvs_p": null,
"transcript": "ENST00000682843.1",
"protein_id": "ENSP00000508173.1",
"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": 2221,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "n.*382T>A",
"hgvs_p": null,
"transcript": "ENST00000683003.1",
"protein_id": "ENSP00000507576.1",
"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,
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],
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"clinvar_submissions_summary": "LP:2 US:1",
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
"message": null
}