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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: 4-184389064-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184389064&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184389064,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_002199.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "NM_002199.4",
"protein_id": "NP_002190.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393593.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002199.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000393593.8",
"protein_id": "ENSP00000377218.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002199.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393593.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.849G>T",
"hgvs_p": "p.Gly283Gly",
"transcript": "ENST00000505067.6",
"protein_id": "ENSP00000421927.2",
"transcript_support_level": 3,
"aa_start": 283,
"aa_end": null,
"aa_length": 384,
"cds_start": 849,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505067.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.849G>T",
"hgvs_p": "p.Gly283Gly",
"transcript": "ENST00000883917.1",
"protein_id": "ENSP00000553976.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 384,
"cds_start": 849,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883917.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.843G>T",
"hgvs_p": "p.Gly281Gly",
"transcript": "ENST00000883918.1",
"protein_id": "ENSP00000553977.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 382,
"cds_start": 843,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883918.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000504340.2",
"protein_id": "ENSP00000512878.1",
"transcript_support_level": 4,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504340.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000510814.6",
"protein_id": "ENSP00000424552.2",
"transcript_support_level": 4,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510814.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696840.1",
"protein_id": "ENSP00000512918.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696840.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696841.1",
"protein_id": "ENSP00000512954.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696841.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696843.1",
"protein_id": "ENSP00000512920.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696843.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696845.1",
"protein_id": "ENSP00000512922.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696845.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696846.1",
"protein_id": "ENSP00000512923.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696846.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696849.1",
"protein_id": "ENSP00000512925.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696849.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000696851.1",
"protein_id": "ENSP00000512927.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696851.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000883919.1",
"protein_id": "ENSP00000553978.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883919.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000883920.1",
"protein_id": "ENSP00000553979.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883920.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000956295.1",
"protein_id": "ENSP00000626354.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956295.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.744G>T",
"hgvs_p": "p.Gly248Gly",
"transcript": "ENST00000956296.1",
"protein_id": "ENSP00000626355.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 349,
"cds_start": 744,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956296.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.738G>T",
"hgvs_p": "p.Gly246Gly",
"transcript": "ENST00000696848.1",
"protein_id": "ENSP00000512924.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 347,
"cds_start": 738,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696848.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.738G>T",
"hgvs_p": "p.Gly246Gly",
"transcript": "ENST00000696853.1",
"protein_id": "ENSP00000512929.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 347,
"cds_start": 738,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696853.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.579G>T",
"hgvs_p": "p.Gly193Gly",
"transcript": "ENST00000502750.2",
"protein_id": "ENSP00000423074.2",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 294,
"cds_start": 579,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502750.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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{
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"verdict": "Likely_benign",
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}
],
"message": null
}