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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: 12-56231415-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56231415&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56231415,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_173596.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "NM_173596.3",
"protein_id": "NP_775867.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454355.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173596.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000454355.7",
"protein_id": "ENSP00000405360.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173596.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454355.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000266980.8",
"protein_id": "ENSP00000266980.4",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266980.8"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881986.1",
"protein_id": "ENSP00000552045.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 550,
"cds_start": 141,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881986.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "NM_001135195.1",
"protein_id": "NP_001128667.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135195.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881967.1",
"protein_id": "ENSP00000552026.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881967.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881968.1",
"protein_id": "ENSP00000552027.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881968.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881969.1",
"protein_id": "ENSP00000552028.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881969.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881970.1",
"protein_id": "ENSP00000552029.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881970.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881971.1",
"protein_id": "ENSP00000552030.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881971.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881972.1",
"protein_id": "ENSP00000552031.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881972.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881974.1",
"protein_id": "ENSP00000552033.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881974.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881977.1",
"protein_id": "ENSP00000552036.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881977.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881978.1",
"protein_id": "ENSP00000552037.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881978.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881979.1",
"protein_id": "ENSP00000552038.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881979.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881980.1",
"protein_id": "ENSP00000552039.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881980.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881981.1",
"protein_id": "ENSP00000552040.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881981.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881982.1",
"protein_id": "ENSP00000552041.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881982.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881992.1",
"protein_id": "ENSP00000552051.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881992.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000881995.1",
"protein_id": "ENSP00000552054.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881995.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000955283.1",
"protein_id": "ENSP00000625342.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955283.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Tyr47*",
"transcript": "ENST00000955284.1",
"protein_id": "ENSP00000625343.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 141,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955284.1"
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}