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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: 2-55659467-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55659467&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55659467,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_033109.5",
"consequences": [
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "NM_033109.5",
"protein_id": "NP_149100.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": null,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "ENST00000447944.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000447944.7",
"protein_id": "ENSP00000400646.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": null,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "NM_033109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447944.7"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917025.1",
"protein_id": "ENSP00000587084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": null,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917025.1"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000867135.1",
"protein_id": "ENSP00000537194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867135.1"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1281+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917023.1",
"protein_id": "ENSP00000587082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917023.1"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000949803.1",
"protein_id": "ENSP00000619862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": null,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949803.1"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1275+690A>G",
"hgvs_p": null,
"transcript": "ENST00000949801.1",
"protein_id": "ENSP00000619860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949801.1"
},
{
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000867137.1",
"protein_id": "ENSP00000537196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867137.1"
},
{
"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": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1236+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917022.1",
"protein_id": "ENSP00000587081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917022.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000867134.1",
"protein_id": "ENSP00000537193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867134.1"
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1215+690A>G",
"hgvs_p": null,
"transcript": "ENST00000949804.1",
"protein_id": "ENSP00000619863.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 760,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 15,
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"gene_symbol": "PNPT1",
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"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917024.1",
"protein_id": "ENSP00000587083.1",
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"aa_start": 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": "ENST00000917024.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1209+690A>G",
"hgvs_p": null,
"transcript": "ENST00000867136.1",
"protein_id": "ENSP00000537195.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PNPT1",
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"hgvs_c": "c.1284+690A>G",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1177-3096A>G",
"hgvs_p": null,
"transcript": "ENST00000949802.1",
"protein_id": "ENSP00000619861.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"feature": "ENST00000949802.1"
},
{
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"strand": false,
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],
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"exon_count": 27,
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"gene_symbol": "PNPT1",
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"hgvs_c": "c.1170+690A>G",
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"transcript": "ENST00000949800.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000949800.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1110+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917027.1",
"protein_id": "ENSP00000587086.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000917027.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "ENST00000917026.1",
"protein_id": "ENSP00000587085.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
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"hgvs_c": "c.223-21868A>G",
"hgvs_p": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1044+690A>G",
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"transcript": "XM_005264629.3",
"protein_id": "XP_005264686.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
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"hgvs_c": "c.1044+690A>G",
"hgvs_p": null,
"transcript": "XM_017005172.2",
"protein_id": "XP_016860661.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005172.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.1284+690A>G",
"hgvs_p": null,
"transcript": "XM_047446161.1",
"protein_id": "XP_047302117.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 504,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446161.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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{
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{
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],
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"gnomad_genomes_ac": 67797,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.89,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AD,AR,Unknown",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}