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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: 10-125788975-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125788975&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 125788975,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001324036.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "NM_000375.3",
"protein_id": "NP_000366.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368797.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000375.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000368797.10",
"protein_id": "ENSP00000357787.4",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000375.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368797.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000368786.5",
"protein_id": "ENSP00000357775.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368786.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"transcript": "ENST00000940865.1",
"protein_id": "ENSP00000610924.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 325,
"cds_start": 871,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "ENST00000879953.1",
"protein_id": "ENSP00000550012.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 324,
"cds_start": 868,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879953.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"transcript": "ENST00000879950.1",
"protein_id": "ENSP00000550009.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 847,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879950.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"transcript": "ENST00000940867.1",
"protein_id": "ENSP00000610926.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 847,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940867.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Ala265Thr",
"transcript": "ENST00000940866.1",
"protein_id": "ENSP00000610925.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 299,
"cds_start": 793,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940866.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"transcript": "ENST00000879956.1",
"protein_id": "ENSP00000550015.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 298,
"cds_start": 790,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879956.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"transcript": "NM_001324036.2",
"protein_id": "NP_001310965.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 292,
"cds_start": 772,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324036.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"transcript": "ENST00000650587.1",
"protein_id": "ENSP00000497366.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 292,
"cds_start": 772,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650587.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Ala248Thr",
"transcript": "ENST00000879945.1",
"protein_id": "ENSP00000550004.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 282,
"cds_start": 742,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879945.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000879955.1",
"protein_id": "ENSP00000550014.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 272,
"cds_start": 712,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879955.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "ENST00000961000.1",
"protein_id": "ENSP00000631059.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 267,
"cds_start": 697,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961000.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "NM_001324037.2",
"protein_id": "NP_001310966.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324037.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000649536.1",
"protein_id": "ENSP00000497817.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649536.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000713579.1",
"protein_id": "ENSP00000518871.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713579.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000879943.1",
"protein_id": "ENSP00000550002.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879943.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000879944.1",
"protein_id": "ENSP00000550003.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879944.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000879948.1",
"protein_id": "ENSP00000550007.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879948.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000879949.1",
"protein_id": "ENSP00000550008.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879949.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Ala231Thr",
"transcript": "ENST00000879951.1",
"protein_id": "ENSP00000550010.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879951.1"
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.531,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Cutaneous porphyria",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cutaneous porphyria",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}