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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: 4-145847922-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145847922&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145847922,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000508784.6",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "NM_001306215.2",
"protein_id": "NP_001293144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7651,
"mane_select": "ENST00000508784.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000508784.6",
"protein_id": "ENSP00000421863.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7651,
"mane_select": "NM_001306215.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.1171+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000513320.5",
"protein_id": "ENSP00000423130.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "NM_001410850.1",
"protein_id": "NP_001397779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000503462.3",
"protein_id": "ENSP00000424541.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000652097.1",
"protein_id": "ENSP00000498532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": -4,
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"cds_length": 3258,
"cdna_start": null,
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"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "NM_178835.5",
"protein_id": "NP_849157.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1077,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000379448.9",
"protein_id": "ENSP00000368761.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": -4,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF827",
"gene_hgnc_id": 27193,
"hgvs_c": "c.2221+1400C>T",
"hgvs_p": null,
"transcript": "ENST00000656985.1",
"protein_id": "ENSP00000499364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ZNF827",
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"hgvs_c": "c.1693+1400C>T",
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"transcript": "ENST00000655597.2",
"protein_id": "ENSP00000499383.2",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ZNF827",
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"hgvs_c": "c.1138+1400C>T",
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"transcript": "ENST00000511659.2",
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{
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],
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],
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],
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],
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"gene_symbol": "ZNF827",
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},
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],
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"gene_symbol": "ZNF827",
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"hgvs_c": "c.1519+1400C>T",
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}