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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: 9-83980155-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83980155&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83980155,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant",
"transcript": "NM_031263.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "NM_031263.4",
"protein_id": "NP_112553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376263.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031263.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000376263.8",
"protein_id": "ENSP00000365439.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376263.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000360384.9",
"protein_id": "ENSP00000353552.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360384.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "NM_031263.4",
"protein_id": "NP_112553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376263.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031263.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000376263.8",
"protein_id": "ENSP00000365439.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376263.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000360384.9",
"protein_id": "ENSP00000353552.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360384.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-108+348G>T",
"hgvs_p": null,
"transcript": "ENST00000376281.8",
"protein_id": "ENSP00000365458.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376281.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-203G>T",
"hgvs_p": null,
"transcript": "ENST00000946131.1",
"protein_id": "ENSP00000616190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-129G>T",
"hgvs_p": null,
"transcript": "ENST00000946133.1",
"protein_id": "ENSP00000616192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946133.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "NM_001318188.2",
"protein_id": "NP_001305117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318188.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-30G>T",
"hgvs_p": null,
"transcript": "ENST00000704052.1",
"protein_id": "ENSP00000515655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
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"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704052.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000946130.1",
"protein_id": "ENSP00000616189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
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"cds_length": 1380,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946130.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "NM_001318187.2",
"protein_id": "NP_001305116.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 440,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318187.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
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"transcript": "ENST00000457156.6",
"protein_id": "ENSP00000409456.2",
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-30G>T",
"hgvs_p": null,
"transcript": "ENST00000946141.1",
"protein_id": "ENSP00000616200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000946141.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "NM_001318186.2",
"protein_id": "NP_001305115.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318186.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000704013.1",
"protein_id": "ENSP00000515626.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 439,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704013.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000704056.1",
"protein_id": "ENSP00000515659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
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"cds_length": 1308,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000704056.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000902585.1",
"protein_id": "ENSP00000572644.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-144G>T",
"hgvs_p": null,
"transcript": "ENST00000704011.1",
"protein_id": "ENSP00000515624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704011.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-203G>T",
"hgvs_p": null,
"transcript": "ENST00000946131.1",
"protein_id": "ENSP00000616190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.-129G>T",
"hgvs_p": null,
"transcript": "ENST00000946133.1",
"protein_id": "ENSP00000616192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946133.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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{
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"effects": [
"downstream_gene_variant"
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}