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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: 12-15623192-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15623192&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15623192,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413831.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "NM_004447.6",
"protein_id": "NP_004438.3",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281172.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004447.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000281172.10",
"protein_id": "ENSP00000281172.5",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004447.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281172.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "n.*1581A>G",
"hgvs_p": null,
"transcript": "ENST00000543468.5",
"protein_id": "ENSP00000445985.1",
"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": "ENST00000543468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "n.*1581A>G",
"hgvs_p": null,
"transcript": "ENST00000543468.5",
"protein_id": "ENSP00000445985.1",
"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": "ENST00000543468.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Tyr799Cys",
"transcript": "ENST00000880409.1",
"protein_id": "ENSP00000550468.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 847,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880409.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Tyr799Cys",
"transcript": "ENST00000880417.1",
"protein_id": "ENSP00000550476.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 847,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880417.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2372A>G",
"hgvs_p": "p.Tyr791Cys",
"transcript": "ENST00000642939.1",
"protein_id": "ENSP00000495312.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 839,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642939.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2372A>G",
"hgvs_p": "p.Tyr791Cys",
"transcript": "ENST00000959883.1",
"protein_id": "ENSP00000629942.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 839,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959883.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Tyr786Cys",
"transcript": "NM_001413831.1",
"protein_id": "NP_001400760.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 834,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413831.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Tyr786Cys",
"transcript": "ENST00000880413.1",
"protein_id": "ENSP00000550472.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 834,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880413.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Tyr786Cys",
"transcript": "ENST00000880418.1",
"protein_id": "ENSP00000550477.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 834,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880418.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2345A>G",
"hgvs_p": "p.Tyr782Cys",
"transcript": "ENST00000646123.1",
"protein_id": "ENSP00000494338.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646123.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2345A>G",
"hgvs_p": "p.Tyr782Cys",
"transcript": "ENST00000959885.1",
"protein_id": "ENSP00000629944.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 830,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959885.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "NM_001413832.1",
"protein_id": "NP_001400761.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413832.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "NM_001413833.1",
"protein_id": "NP_001400762.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413833.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "NM_001413834.1",
"protein_id": "NP_001400763.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413834.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000543523.5",
"protein_id": "ENSP00000441867.1",
"transcript_support_level": 5,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543523.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000543612.5",
"protein_id": "ENSP00000442388.1",
"transcript_support_level": 2,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543612.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000642278.1",
"protein_id": "ENSP00000494689.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642278.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000644374.1",
"protein_id": "ENSP00000495956.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644374.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000645775.1",
"protein_id": "ENSP00000495824.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645775.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000646828.1",
"protein_id": "ENSP00000494842.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 822,
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}