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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: 9-85578925-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85578925&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 85578925,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286715.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "NM_001330701.2",
"protein_id": "NP_001317630.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357081.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330701.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000357081.8",
"protein_id": "ENSP00000349592.3",
"transcript_support_level": 5,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330701.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357081.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "ENST00000376083.7",
"protein_id": "ENSP00000365251.3",
"transcript_support_level": 1,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376083.7"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3493T>G",
"hgvs_p": "p.Tyr1165Asp",
"transcript": "NM_001286715.1",
"protein_id": "NP_001273644.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286715.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3493T>G",
"hgvs_p": "p.Tyr1165Asp",
"transcript": "ENST00000337006.8",
"protein_id": "ENSP00000338512.5",
"transcript_support_level": 5,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337006.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3475T>G",
"hgvs_p": "p.Tyr1159Asp",
"transcript": "ENST00000950851.1",
"protein_id": "ENSP00000620910.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950851.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3373T>G",
"hgvs_p": "p.Tyr1125Asp",
"transcript": "NM_001286717.1",
"protein_id": "NP_001273646.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286717.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3373T>G",
"hgvs_p": "p.Tyr1125Asp",
"transcript": "ENST00000628899.1",
"protein_id": "ENSP00000487074.1",
"transcript_support_level": 2,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628899.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000901876.1",
"protein_id": "ENSP00000571935.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901876.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000901879.1",
"protein_id": "ENSP00000571938.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901879.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000901883.1",
"protein_id": "ENSP00000571942.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901883.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000950853.1",
"protein_id": "ENSP00000620912.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950853.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3337T>G",
"hgvs_p": "p.Tyr1113Asp",
"transcript": "ENST00000950854.1",
"protein_id": "ENSP00000620913.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950854.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3331T>G",
"hgvs_p": "p.Tyr1111Asp",
"transcript": "ENST00000901875.1",
"protein_id": "ENSP00000571934.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901875.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "ENST00000901885.1",
"protein_id": "ENSP00000571944.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901885.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "NM_015239.3",
"protein_id": "NP_056054.2",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015239.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "ENST00000901874.1",
"protein_id": "ENSP00000571933.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901874.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "ENST00000901882.1",
"protein_id": "ENSP00000571941.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901882.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3217T>G",
"hgvs_p": "p.Tyr1073Asp",
"transcript": "ENST00000912527.1",
"protein_id": "ENSP00000582586.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912527.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3205T>G",
"hgvs_p": "p.Tyr1069Asp",
"transcript": "ENST00000901880.1",
"protein_id": "ENSP00000571939.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901880.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3205T>G",
"hgvs_p": "p.Tyr1069Asp",
"transcript": "ENST00000912526.1",
"protein_id": "ENSP00000582585.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912526.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3133T>G",
"hgvs_p": "p.Tyr1045Asp",
"transcript": "ENST00000912530.1",
"protein_id": "ENSP00000582589.1",
"transcript_support_level": null,
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],
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"splice_prediction_selected": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}