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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: 8-71535183-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71535183&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71535183,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001370333.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "n.248+561A>C",
"hgvs_p": null,
"transcript": "ENST00000523987.4",
"protein_id": null,
"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": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000523987.4"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.33+561A>C",
"hgvs_p": null,
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370333.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.33+561A>C",
"hgvs_p": null,
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643681.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-129+561A>C",
"hgvs_p": null,
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370334.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-344+561A>C",
"hgvs_p": null,
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370335.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-344+561A>C",
"hgvs_p": null,
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645793.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-129+561A>C",
"hgvs_p": null,
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
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"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647540.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-129+561A>C",
"hgvs_p": null,
"transcript": "ENST00000862515.1",
"protein_id": "ENSP00000532574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862515.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-55+561A>C",
"hgvs_p": null,
"transcript": "ENST00000862516.1",
"protein_id": "ENSP00000532575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
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"cds_length": 1779,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000862516.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
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"gene_symbol": "EYA1",
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"hgvs_c": "c.-55+561A>C",
"hgvs_p": null,
"transcript": "ENST00000862517.1",
"protein_id": "ENSP00000532576.1",
"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": "ENST00000862517.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "EYA1",
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"hgvs_c": "c.33+561A>C",
"hgvs_p": null,
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "EYA1",
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"hgvs_c": "c.33+561A>C",
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},
{
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],
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},
{
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],
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"gene_symbol": "EYA1",
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"hgvs_c": "c.33+561A>C",
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"transcript": "XM_017013202.2",
"protein_id": "XP_016868691.1",
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},
{
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],
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"gene_symbol": "EYA1",
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},
{
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],
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"gene_symbol": "EYA1",
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"hgvs_c": "c.33+561A>C",
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"transcript": "XM_011517484.4",
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},
{
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],
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"gene_symbol": "EYA1",
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"hgvs_c": "c.33+561A>C",
"hgvs_p": null,
"transcript": "XM_047421521.1",
"protein_id": "XP_047277477.1",
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},
{
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],
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"gene_symbol": "EYA1",
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"transcript": "XM_047421522.1",
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},
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],
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"gene_symbol": "EYA1",
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},
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],
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"biotype": "protein_coding",
"feature": "XM_047421524.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.-129+561A>C",
"hgvs_p": null,
"transcript": "XM_047421525.1",
"protein_id": "XP_047277481.1",
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"mane_select": null,
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"feature": "XM_047421525.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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}
],
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}