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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: 2-189784514-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189784514&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189784514,
"ref": "G",
"alt": "T",
"effect": "5_prime_UTR_variant",
"transcript": "NM_000534.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "NM_000534.5",
"protein_id": "NP_000525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441310.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000441310.7",
"protein_id": "ENSP00000406490.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000534.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441310.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000374826.8",
"protein_id": "ENSP00000363959.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374826.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000921104.1",
"protein_id": "ENSP00000591163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": null,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-71G>T",
"hgvs_p": null,
"transcript": "ENST00000921113.1",
"protein_id": "ENSP00000591172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000921105.1",
"protein_id": "ENSP00000591164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-226G>T",
"hgvs_p": null,
"transcript": "NM_001321045.2",
"protein_id": "NP_001307974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321045.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-277G>T",
"hgvs_p": null,
"transcript": "NM_001321047.2",
"protein_id": "NP_001307976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321047.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-197G>T",
"hgvs_p": null,
"transcript": "NM_001321048.2",
"protein_id": "NP_001307977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321048.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-71G>T",
"hgvs_p": null,
"transcript": "ENST00000899827.1",
"protein_id": "ENSP00000569886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-277G>T",
"hgvs_p": null,
"transcript": "ENST00000899828.1",
"protein_id": "ENSP00000569887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899828.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-197G>T",
"hgvs_p": null,
"transcript": "ENST00000899829.1",
"protein_id": "ENSP00000569888.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 932,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000899829.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-121G>T",
"hgvs_p": null,
"transcript": "ENST00000899832.1",
"protein_id": "ENSP00000569891.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000899832.1"
},
{
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"protein_coding": true,
"strand": true,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "PMS1",
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"hgvs_c": "c.-226G>T",
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"transcript": "ENST00000921103.1",
"protein_id": "ENSP00000591162.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-247G>T",
"hgvs_p": null,
"transcript": "ENST00000961092.1",
"protein_id": "ENSP00000631151.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000961092.1"
},
{
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"protein_coding": true,
"strand": true,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "PMS1",
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"hgvs_c": "c.-100G>T",
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"transcript": "ENST00000921111.1",
"protein_id": "ENSP00000591170.1",
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"feature": "ENST00000921111.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000921109.1",
"protein_id": "ENSP00000591168.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "ENST00000961091.1",
"protein_id": "ENSP00000631150.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "PMS1",
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"hgvs_c": "c.-100G>T",
"hgvs_p": null,
"transcript": "NM_001128143.2",
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},
{
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"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-100G>T",
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"transcript": "ENST00000409823.7",
"protein_id": "ENSP00000387125.3",
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},
{
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"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-71G>T",
"hgvs_p": null,
"transcript": "ENST00000921107.1",
"protein_id": "ENSP00000591166.1",
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921107.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.-226G>T",
"hgvs_p": null,
"transcript": "ENST00000921108.1",
"protein_id": "ENSP00000591167.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 893,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921108.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
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"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": -10,
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"acmg_by_gene": [
{
"score": -10,
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_000534.5",
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"effects": [
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"inheritance_mode": "AD",
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},
{
"score": -10,
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"BA1"
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"verdict": "Benign",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}