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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: X-85245992-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85245992&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85245992,
"ref": "T",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001330574.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-316T>A",
"hgvs_p": null,
"transcript": "NM_001330574.2",
"protein_id": "NP_001317503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "ENST00000674551.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-316T>A",
"hgvs_p": null,
"transcript": "ENST00000674551.1",
"protein_id": "ENSP00000502839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "NM_001330574.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-674T>A",
"hgvs_p": null,
"transcript": "ENST00000360700.4",
"protein_id": "ENSP00000353922.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-311T>A",
"hgvs_p": null,
"transcript": "ENST00000276123.7",
"protein_id": "ENSP00000276123.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-57T>A",
"hgvs_p": null,
"transcript": "ENST00000373165.7",
"protein_id": "ENSP00000362260.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-311T>A",
"hgvs_p": null,
"transcript": "NM_001375432.1",
"protein_id": "NP_001362361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-674T>A",
"hgvs_p": null,
"transcript": "NM_001375433.1",
"protein_id": "NP_001362362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-200T>A",
"hgvs_p": null,
"transcript": "NM_001375434.1",
"protein_id": "NP_001362363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-674T>A",
"hgvs_p": null,
"transcript": "NM_001375435.1",
"protein_id": "NP_001362364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-316T>A",
"hgvs_p": null,
"transcript": "NM_001375436.1",
"protein_id": "NP_001362365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-311T>A",
"hgvs_p": null,
"transcript": "NM_001375437.1",
"protein_id": "NP_001362366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-57T>A",
"hgvs_p": null,
"transcript": "NM_021998.5",
"protein_id": "NP_068838.3",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-674T>A",
"hgvs_p": null,
"transcript": "XM_011531019.2",
"protein_id": "XP_011529321.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-311T>A",
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},
{
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],
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"gene_symbol": "ZNF711",
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"transcript": "XM_011531021.2",
"protein_id": "XP_011529323.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-200T>A",
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"transcript": "XM_011531022.2",
"protein_id": "XP_011529324.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "ZNF711",
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"hgvs_c": "c.-57T>A",
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"transcript": "XM_011531023.4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-200T>A",
"hgvs_p": null,
"transcript": "XM_005262187.2",
"protein_id": "XP_005262244.1",
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},
{
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ZNF711",
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],
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},
{
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],
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"gene_symbol": "ZNF711",
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"hgvs_c": "c.-1218T>A",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-674T>A",
"hgvs_p": null,
"transcript": "XM_011531025.2",
"protein_id": "XP_011529327.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-1218T>A",
"hgvs_p": null,
"transcript": "XM_047442467.1",
"protein_id": "XP_047298423.1",
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],
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"splice_prediction_selected": "Benign",
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{
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],
"clinvar_disease": " X-linked 97,Intellectual disability",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Intellectual disability, X-linked 97",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}