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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: 1-53062236-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53062236&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53062236,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "NM_153703.5",
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "NM_153703.5",
"protein_id": "NP_714914.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312553.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153703.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000312553.10",
"protein_id": "ENSP00000308315.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153703.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312553.10"
},
{
"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": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-287C>G",
"hgvs_p": null,
"transcript": "ENST00000371500.8",
"protein_id": "ENSP00000360555.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371500.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000395871.7",
"protein_id": "ENSP00000379212.3",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 661,
"cds_start": 17,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395871.7"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-97C>G",
"hgvs_p": null,
"transcript": "ENST00000618387.1",
"protein_id": "ENSP00000479233.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618387.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000895714.1",
"protein_id": "ENSP00000565773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895714.1"
},
{
"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": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-374C>G",
"hgvs_p": null,
"transcript": "NM_001199080.4",
"protein_id": "NP_001186009.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199080.4"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-184C>G",
"hgvs_p": null,
"transcript": "NM_001199081.3",
"protein_id": "NP_001186010.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199081.3"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-318C>G",
"hgvs_p": null,
"transcript": "ENST00000895711.1",
"protein_id": "ENSP00000565770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895711.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000895712.1",
"protein_id": "ENSP00000565771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895712.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000895713.1",
"protein_id": "ENSP00000565772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895713.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-219C>G",
"hgvs_p": null,
"transcript": "ENST00000895715.1",
"protein_id": "ENSP00000565774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895715.1"
},
{
"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": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-1299C>G",
"hgvs_p": null,
"transcript": "ENST00000895717.1",
"protein_id": "ENSP00000565776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895717.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-1435C>G",
"hgvs_p": null,
"transcript": "ENST00000895718.1",
"protein_id": "ENSP00000565777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"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": "ENST00000895718.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-177C>G",
"hgvs_p": null,
"transcript": "ENST00000895719.1",
"protein_id": "ENSP00000565778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895719.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000961067.1",
"protein_id": "ENSP00000631126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"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": "ENST00000961067.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-199C>G",
"hgvs_p": null,
"transcript": "ENST00000961070.1",
"protein_id": "ENSP00000631129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961070.1"
},
{
"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": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-374C>G",
"hgvs_p": null,
"transcript": "ENST00000961071.1",
"protein_id": "ENSP00000631130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961071.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000895716.1",
"protein_id": "ENSP00000565775.1",
"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,
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"biotype": "protein_coding",
"feature": "ENST00000895716.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000961069.1",
"protein_id": "ENSP00000631128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 581,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961069.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-128C>G",
"hgvs_p": null,
"transcript": "ENST00000673956.1",
"protein_id": "ENSP00000501041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673956.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.-275C>G",
"hgvs_p": null,
"transcript": "ENST00000673702.1",
"protein_id": "ENSP00000501284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673702.1"
},
{
"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,
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "PODN",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.29312899708747864,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.537,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153703.5",
"gene_symbol": "PODN",
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"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-128C>G",
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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
}