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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: X-18907981-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18907981&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18907981,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001440805.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "NM_000292.3",
"protein_id": "NP_000283.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000292.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000379942.5",
"protein_id": "ENSP00000369274.4",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379942.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "NM_001440805.1",
"protein_id": "NP_001427734.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440805.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000897868.1",
"protein_id": "ENSP00000567927.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897868.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2421G>A",
"hgvs_p": "p.Gly807Gly",
"transcript": "ENST00000954730.1",
"protein_id": "ENSP00000624789.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954730.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000897873.1",
"protein_id": "ENSP00000567932.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897873.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "NM_001440800.1",
"protein_id": "NP_001427729.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440800.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000897869.1",
"protein_id": "ENSP00000567928.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897869.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "NM_001440801.1",
"protein_id": "NP_001427730.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440801.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000897867.1",
"protein_id": "ENSP00000567926.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897867.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000954732.1",
"protein_id": "ENSP00000624791.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954732.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "NM_001440802.1",
"protein_id": "NP_001427731.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440802.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "ENST00000897870.1",
"protein_id": "ENSP00000567929.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897870.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2421G>A",
"hgvs_p": "p.Gly807Gly",
"transcript": "ENST00000934920.1",
"protein_id": "ENSP00000604979.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934920.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Gly796Gly",
"transcript": "ENST00000934921.1",
"protein_id": "ENSP00000604980.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934921.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2355G>A",
"hgvs_p": "p.Gly785Gly",
"transcript": "ENST00000954728.1",
"protein_id": "ENSP00000624787.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2355,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954728.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gly812Gly",
"transcript": "ENST00000934923.1",
"protein_id": "ENSP00000604982.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934923.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "NM_001440803.1",
"protein_id": "NP_001427732.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440803.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "ENST00000954729.1",
"protein_id": "ENSP00000624788.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954729.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "NM_001440804.1",
"protein_id": "NP_001427733.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440804.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gly779Gly",
"transcript": "ENST00000897871.1",
"protein_id": "ENSP00000567930.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2337,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897871.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2328G>A",
"hgvs_p": "p.Gly776Gly",
"transcript": "ENST00000934922.1",
"protein_id": "ENSP00000604981.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2328,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
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],
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"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001440805.1",
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"effects": [
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],
"inheritance_mode": "XL,AR",
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}
],
"clinvar_disease": "Glycogen storage disease IXa1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Glycogen storage disease IXa1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}