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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: 18-24155973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24155973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24155973,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012189.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "NM_153769.3",
"protein_id": "NP_722453.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399496.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153769.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000399496.8",
"protein_id": "ENSP00000382419.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153769.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399496.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000621648.4",
"protein_id": "ENSP00000483621.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 493,
"cds_start": 472,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621648.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "ENST00000399481.6",
"protein_id": "ENSP00000382404.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 475,
"cds_start": 418,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399481.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000399499.5",
"protein_id": "ENSP00000382421.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399499.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Pro60Ser",
"transcript": "ENST00000327201.10",
"protein_id": "ENSP00000317095.6",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 281,
"cds_start": 178,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327201.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000415309.6",
"protein_id": "ENSP00000399973.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 221,
"cds_start": 472,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415309.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "ENST00000581397.5",
"protein_id": "ENSP00000462811.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 195,
"cds_start": 418,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581397.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "NM_012189.4",
"protein_id": "NP_036321.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 493,
"cds_start": 472,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012189.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000463087.5",
"protein_id": "ENSP00000432870.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 493,
"cds_start": 472,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463087.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000486759.6",
"protein_id": "ENSP00000431142.3",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 493,
"cds_start": 472,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486759.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_153768.3",
"protein_id": "NP_722452.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 475,
"cds_start": 418,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153768.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Pro60Ser",
"transcript": "NM_001308231.2",
"protein_id": "NP_001295160.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 395,
"cds_start": 178,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308231.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Pro60Ser",
"transcript": "ENST00000627314.1",
"protein_id": "ENSP00000486801.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 395,
"cds_start": 178,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627314.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "NM_138644.3",
"protein_id": "NP_619585.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138644.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000915917.1",
"protein_id": "ENSP00000585976.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915917.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000915918.1",
"protein_id": "ENSP00000585977.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 379,
"cds_start": 472,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915918.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Pro60Ser",
"transcript": "NM_138643.3",
"protein_id": "NP_619584.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 281,
"cds_start": 178,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138643.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "ENST00000915919.1",
"protein_id": "ENSP00000585978.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 222,
"cds_start": 472,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915919.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "NM_153770.3",
"protein_id": "NP_722454.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 221,
"cds_start": 472,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153770.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Pro157Ser",
"transcript": "ENST00000915916.1",
"protein_id": "ENSP00000585975.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 220,
"cds_start": 469,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915916.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"transcript": "XM_024451160.2",
"protein_id": "XP_024306928.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 493,
"cds_start": 472,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451160.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012189.4",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}