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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: 1-185303351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=185303351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 185303351,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_006469.5",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "NM_006469.5",
"protein_id": "NP_006460.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367498.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006469.5"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000367498.8",
"protein_id": "ENSP00000356468.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006469.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367498.8"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "n.966-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000480769.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480769.5"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.796-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000957478.1",
"protein_id": "ENSP00000627537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": null,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957478.1"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.787-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000866810.1",
"protein_id": "ENSP00000536869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866810.1"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.787-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000957479.1",
"protein_id": "ENSP00000627538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957479.1"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.778-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000922274.1",
"protein_id": "ENSP00000592333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922274.1"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000718429.1",
"protein_id": "ENSP00000520813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718429.1"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000866811.1",
"protein_id": "ENSP00000536870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
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"cds_length": 1929,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866811.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000866814.1",
"protein_id": "ENSP00000536873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866814.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 8,
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"gene_symbol": "IVNS1ABP",
"gene_hgnc_id": 16951,
"hgvs_c": "c.766-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000866815.1",
"protein_id": "ENSP00000536874.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.766-1788G>A",
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"transcript": "ENST00000866816.1",
"protein_id": "ENSP00000536875.1",
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"feature": "ENST00000866816.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.766-1788G>A",
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},
{
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],
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},
{
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],
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"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.766-1788G>A",
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"transcript": "ENST00000957477.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.766-1788G>A",
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"transcript": "ENST00000866818.1",
"protein_id": "ENSP00000536877.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 8,
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"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.766-1794G>A",
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"transcript": "ENST00000922273.1",
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},
{
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],
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},
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],
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"gene_symbol": "IVNS1ABP",
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000922272.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IVNS1ABP",
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"hgvs_c": "c.658-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000922271.1",
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"feature": "ENST00000922271.1"
},
{
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}