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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: 6-133448135-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133448135&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133448135,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 639,
"cds_start": 233,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 639,
"cds_start": 233,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 645,
"cds_start": 233,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 645,
"cds_start": 233,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 639,
"cds_start": 233,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "XM_017010368.3",
"protein_id": "XP_016865857.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 654,
"cds_start": 233,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "XM_017010369.3",
"protein_id": "XP_016865858.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 648,
"cds_start": 233,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "XM_005266851.6",
"protein_id": "XP_005266908.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 645,
"cds_start": 233,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Arg",
"transcript": "XM_047418277.1",
"protein_id": "XP_047274233.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 623,
"cds_start": 233,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 9328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "n.233C>G",
"hgvs_p": null,
"transcript": "ENST00000531861.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "n.691C>G",
"hgvs_p": null,
"transcript": "XR_001743219.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "n.691C>G",
"hgvs_p": null,
"transcript": "XR_001743220.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1974,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 616,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "EYA4",
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"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
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"aa_start": null,
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"cds_start": -4,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 4,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.208+1381C>G",
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"transcript": "ENST00000525849.7",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "EYA4",
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"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
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"gene_symbol": "EYA4",
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"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "NM_001301012.2",
"protein_id": "NP_001287941.1",
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},
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],
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"gene_symbol": "EYA4",
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"hgvs_c": "c.208+1381C>G",
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},
{
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],
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"gene_symbol": "EYA4",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.208+1381C>G",
"hgvs_p": null,
"transcript": "ENST00000430974.6",
"protein_id": "ENSP00000388670.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.-201+1381C>G",
"hgvs_p": null,
"transcript": "ENST00000684773.1",
"protein_id": "ENSP00000506812.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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