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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: 9-129868177-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129868177&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129868177,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006676.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "NM_001110303.4",
"protein_id": "NP_001103773.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372429.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110303.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000372429.8",
"protein_id": "ENSP00000361506.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001110303.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372429.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000315480.9",
"protein_id": "ENSP00000313811.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315480.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000358355.5",
"protein_id": "ENSP00000351122.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358355.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "NM_001008563.5",
"protein_id": "NP_001008563.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008563.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "NM_006676.8",
"protein_id": "NP_006667.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006676.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000853423.1",
"protein_id": "ENSP00000523482.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853423.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000853424.1",
"protein_id": "ENSP00000523483.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853424.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000853427.1",
"protein_id": "ENSP00000523486.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853427.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000853428.1",
"protein_id": "ENSP00000523487.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853428.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000922133.1",
"protein_id": "ENSP00000592192.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922133.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000922134.1",
"protein_id": "ENSP00000592193.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922134.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000922136.1",
"protein_id": "ENSP00000592195.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922136.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949809.1",
"protein_id": "ENSP00000619868.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949809.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949811.1",
"protein_id": "ENSP00000619870.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949811.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949812.1",
"protein_id": "ENSP00000619871.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949812.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949813.1",
"protein_id": "ENSP00000619872.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949813.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949814.1",
"protein_id": "ENSP00000619873.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949814.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949815.1",
"protein_id": "ENSP00000619874.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949815.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949816.1",
"protein_id": "ENSP00000619875.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949816.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949817.1",
"protein_id": "ENSP00000619876.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949817.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP20",
"gene_hgnc_id": 12619,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Leu",
"transcript": "ENST00000949820.1",
"protein_id": "ENSP00000619879.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 914,
"cds_start": 863,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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{
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],
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],
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"dbsnp": "rs759073791",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.810774564743042,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8186,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.798,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006676.8",
"gene_symbol": "USP20",
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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
}