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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: 15-69414464-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69414464&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69414464,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001367805.3",
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "NM_001367805.3",
"protein_id": "NP_001354734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679126.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367805.3"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000679126.1",
"protein_id": "ENSP00000504770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367805.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679126.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000260363.9",
"protein_id": "ENSP00000260363.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": null,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260363.9"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000352331.8",
"protein_id": "ENSP00000304978.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": null,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352331.8"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000559279.6",
"protein_id": "ENSP00000453386.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": null,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559279.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "n.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000558346.5",
"protein_id": "ENSP00000453576.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "n.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000561089.5",
"protein_id": "ENSP00000453629.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "n.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000558346.5",
"protein_id": "ENSP00000453576.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "n.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000561089.5",
"protein_id": "ENSP00000453629.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561089.5"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933192.1",
"protein_id": "ENSP00000603251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": null,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933192.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000963415.1",
"protein_id": "ENSP00000633474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": null,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963415.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933193.1",
"protein_id": "ENSP00000603252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": null,
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"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933193.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "NM_138555.4",
"protein_id": "NP_612565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": null,
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"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138555.4"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000647715.1",
"protein_id": "ENSP00000497065.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647715.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933186.1",
"protein_id": "ENSP00000603245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": null,
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"cds_length": 2880,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933186.1"
},
{
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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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000395392.6",
"protein_id": "ENSP00000378790.2",
"transcript_support_level": 5,
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"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": "ENST00000395392.6"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933187.1",
"protein_id": "ENSP00000603246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_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": "ENST00000933187.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "NM_001367804.2",
"protein_id": "NP_001354733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"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_001367804.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933188.1",
"protein_id": "ENSP00000603247.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933188.1"
},
{
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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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000963414.1",
"protein_id": "ENSP00000633473.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 890,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000963414.1"
},
{
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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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000933189.1",
"protein_id": "ENSP00000603248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": null,
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"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933189.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF23",
"gene_hgnc_id": 6392,
"hgvs_c": "c.-2C>A",
"hgvs_p": null,
"transcript": "ENST00000902294.1",
"protein_id": "ENSP00000572353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
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{
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{
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{
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{
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],
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.18,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001367805.3",
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"effects": [
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000558617.2",
"gene_symbol": "KIF23-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.566G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}