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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: 3-47498363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47498363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47498363,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031703.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "NM_001031703.3",
"protein_id": "NP_001026873.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 266,
"cds_start": 595,
"cds_end": null,
"cds_length": 801,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "ENST00000296149.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000296149.9",
"protein_id": "ENSP00000296149.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 266,
"cds_start": 595,
"cds_end": null,
"cds_length": 801,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "NM_001031703.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Gly207Ser",
"transcript": "NM_001424210.1",
"protein_id": "NP_001411139.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 274,
"cds_start": 619,
"cds_end": null,
"cds_length": 825,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001424211.1",
"protein_id": "NP_001411140.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 263,
"cds_start": 586,
"cds_end": null,
"cds_length": 792,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001424212.1",
"protein_id": "NP_001411141.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 263,
"cds_start": 586,
"cds_end": null,
"cds_length": 792,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001424213.1",
"protein_id": "NP_001411142.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 263,
"cds_start": 586,
"cds_end": null,
"cds_length": 792,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "NM_001424214.1",
"protein_id": "NP_001411143.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 249,
"cds_start": 544,
"cds_end": null,
"cds_length": 750,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Ser",
"transcript": "NM_001424216.1",
"protein_id": "NP_001411145.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 217,
"cds_start": 448,
"cds_end": null,
"cds_length": 654,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Ser",
"transcript": "NM_001424217.1",
"protein_id": "NP_001411146.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 217,
"cds_start": 448,
"cds_end": null,
"cds_length": 654,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Ser",
"transcript": "NM_001424218.1",
"protein_id": "NP_001411147.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 217,
"cds_start": 448,
"cds_end": null,
"cds_length": 654,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"transcript": "NM_001424219.1",
"protein_id": "NP_001411148.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 216,
"cds_start": 445,
"cds_end": null,
"cds_length": 651,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001363957.1",
"protein_id": "NP_001350886.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424220.1",
"protein_id": "NP_001411149.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424222.1",
"protein_id": "NP_001411151.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424223.1",
"protein_id": "NP_001411152.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424224.1",
"protein_id": "NP_001411153.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424225.1",
"protein_id": "NP_001411154.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424226.1",
"protein_id": "NP_001411155.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001424227.1",
"protein_id": "NP_001411156.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000439305.5",
"protein_id": "ENSP00000402399.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000446787.5",
"protein_id": "ENSP00000412593.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000412761.5",
"protein_id": "ENSP00000415301.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 156,
"cds_start": 376,
"cds_end": null,
"cds_length": 473,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000444760.5",
"protein_id": "ENSP00000406130.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 150,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}