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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: 9-135484710-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135484710&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135484710,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014811.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "NM_014811.5",
"protein_id": "NP_055626.3",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": "ENST00000356818.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000356818.7",
"protein_id": "ENSP00000349274.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": "NM_014811.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000401470.3",
"protein_id": "ENSP00000385826.3",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000604351.5",
"protein_id": "ENSP00000473820.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000605286.5",
"protein_id": "ENSP00000474807.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000605660.1",
"protein_id": "ENSP00000474794.1",
"transcript_support_level": 6,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_005263411.3",
"protein_id": "XP_005263468.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015355.3",
"protein_id": "XP_016870844.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 6135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015356.3",
"protein_id": "XP_016870845.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 4947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015357.2",
"protein_id": "XP_016870846.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015358.2",
"protein_id": "XP_016870847.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015360.3",
"protein_id": "XP_016870849.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015361.3",
"protein_id": "XP_016870850.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
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"cds_length": 3630,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_017015362.3",
"protein_id": "XP_016870851.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_024447721.2",
"protein_id": "XP_024303489.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
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"cdna_start": 792,
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"cdna_length": 4974,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424209.1",
"protein_id": "XP_047280165.1",
"transcript_support_level": null,
"aa_start": 67,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424210.1",
"protein_id": "XP_047280166.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
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"cdna_start": 956,
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"cdna_length": 5138,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424211.1",
"protein_id": "XP_047280167.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
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"cdna_start": 2155,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424212.1",
"protein_id": "XP_047280168.1",
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"feature": null
},
{
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"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424213.1",
"protein_id": "XP_047280169.1",
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"aa_start": 67,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424214.1",
"protein_id": "XP_047280170.1",
"transcript_support_level": null,
"aa_start": 67,
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"aa_length": 1209,
"cds_start": 200,
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"cdna_start": 931,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "XM_047424215.1",
"protein_id": "XP_047280171.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1209,
"cds_start": 200,
"cds_end": null,
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"cdna_start": 880,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R26",
"gene_hgnc_id": 29089,
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"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}