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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: 1-161548524-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161548524&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161548524,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000443193.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "NM_000569.8",
"protein_id": "NP_000560.7",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "ENST00000443193.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000443193.6",
"protein_id": "ENSP00000392047.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "NM_000569.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "ENST00000699402.1",
"protein_id": "ENSP00000514363.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 155,
"cds_start": 213,
"cds_end": null,
"cds_length": 468,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.528G>T",
"hgvs_p": "p.Ser176Ser",
"transcript": "NM_001127592.2",
"protein_id": "NP_001121064.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 358,
"cds_start": 528,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Ser177Ser",
"transcript": "NM_001329122.1",
"protein_id": "NP_001316051.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 273,
"cds_start": 531,
"cds_end": null,
"cds_length": 822,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699401.1",
"protein_id": "ENSP00000514362.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 269,
"cds_start": 216,
"cds_end": null,
"cds_length": 810,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699398.1",
"protein_id": "ENSP00000514359.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 262,
"cds_start": 216,
"cds_end": null,
"cds_length": 789,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "NM_001127593.1",
"protein_id": "NP_001121065.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "NM_001127595.2",
"protein_id": "NP_001121067.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "NM_001329120.2",
"protein_id": "NP_001316049.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000367967.8",
"protein_id": "ENSP00000356944.3",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000436743.7",
"protein_id": "ENSP00000416607.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699395.1",
"protein_id": "ENSP00000514356.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699396.1",
"protein_id": "ENSP00000514357.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699397.1",
"protein_id": "ENSP00000514358.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 254,
"cds_start": 216,
"cds_end": null,
"cds_length": 765,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "NM_001127596.2",
"protein_id": "NP_001121068.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 253,
"cds_start": 213,
"cds_end": null,
"cds_length": 762,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "NM_001386450.1",
"protein_id": "NP_001373379.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 253,
"cds_start": 213,
"cds_end": null,
"cds_length": 762,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "ENST00000426740.8",
"protein_id": "ENSP00000410180.3",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 253,
"cds_start": 213,
"cds_end": null,
"cds_length": 762,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "ENST00000699400.1",
"protein_id": "ENSP00000514361.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 253,
"cds_start": 213,
"cds_end": null,
"cds_length": 762,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.165G>T",
"hgvs_p": "p.Ser55Ser",
"transcript": "ENST00000699399.1",
"protein_id": "ENSP00000514360.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 165,
"cds_end": null,
"cds_length": 714,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.213G>T",
"hgvs_p": "p.Ser71Ser",
"transcript": "ENST00000442336.2",
"protein_id": "ENSP00000396567.2",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 134,
"cds_start": 213,
"cds_end": null,
"cds_length": 406,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.216G>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000699403.1",
"protein_id": "ENSP00000514364.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 77,
"cds_start": 216,
"cds_end": null,
"cds_length": 234,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Ser101Ser",
"transcript": "XM_047449443.1",
"protein_id": "XP_047305399.1",
"transcript_support_level": null,
"aa_start": 101,
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"aa_length": 283,
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{
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"inheritance_mode": "AR",
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{
"score": -1,
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"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000699402.1",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "",
"hgvs_c": "c.213G>T",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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},
{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000537821.2",
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"intron_variant"
],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}