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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: 2-190344992-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190344992&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190344992,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_002194.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+1031C>T",
"hgvs_p": null,
"transcript": "NM_001128928.2",
"protein_id": "NP_001122400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": "ENST00000392329.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128928.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+1031C>T",
"hgvs_p": null,
"transcript": "ENST00000392329.7",
"protein_id": "ENSP00000376142.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": "NM_001128928.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392329.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-65+1031C>T",
"hgvs_p": null,
"transcript": "ENST00000322522.8",
"protein_id": "ENSP00000325423.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322522.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906109",
"gene_hgnc_id": null,
"hgvs_c": "c.-676G>A",
"hgvs_p": null,
"transcript": "XM_047446773.1",
"protein_id": "XP_047302729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-65+1031C>T",
"hgvs_p": null,
"transcript": "ENST00000889768.1",
"protein_id": "ENSP00000559827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-65+1031C>T",
"hgvs_p": null,
"transcript": "NM_002194.4",
"protein_id": "NP_002185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002194.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+914C>T",
"hgvs_p": null,
"transcript": "ENST00000889764.1",
"protein_id": "ENSP00000559823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-201+1031C>T",
"hgvs_p": null,
"transcript": "ENST00000889767.1",
"protein_id": "ENSP00000559826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+918C>T",
"hgvs_p": null,
"transcript": "ENST00000889770.1",
"protein_id": "ENSP00000559829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-118+914C>T",
"hgvs_p": null,
"transcript": "ENST00000889771.1",
"protein_id": "ENSP00000559830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+774C>T",
"hgvs_p": null,
"transcript": "ENST00000889773.1",
"protein_id": "ENSP00000559832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889773.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-118+774C>T",
"hgvs_p": null,
"transcript": "ENST00000889774.1",
"protein_id": "ENSP00000559833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"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": "ENST00000889774.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-262+774C>T",
"hgvs_p": null,
"transcript": "ENST00000889775.1",
"protein_id": "ENSP00000559834.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 399,
"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": "ENST00000889775.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+612C>T",
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"transcript": "ENST00000889776.1",
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"feature": "ENST00000889776.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-65+4260C>T",
"hgvs_p": null,
"transcript": "ENST00000926888.1",
"protein_id": "ENSP00000596947.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1670,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000926888.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "INPP1",
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"hgvs_c": "c.-262+914C>T",
"hgvs_p": null,
"transcript": "ENST00000926889.1",
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"biotype": "protein_coding",
"feature": "ENST00000926889.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-279-513C>T",
"hgvs_p": null,
"transcript": "ENST00000956157.1",
"protein_id": "ENSP00000626216.1",
"transcript_support_level": null,
"aa_start": 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": "ENST00000956157.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-251+1031C>T",
"hgvs_p": null,
"transcript": "ENST00000956158.1",
"protein_id": "ENSP00000626217.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000956158.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-209+612C>T",
"hgvs_p": null,
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"protein_id": "ENSP00000626218.1",
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"feature": "ENST00000956159.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-279-513C>T",
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"protein_id": "ENSP00000626219.1",
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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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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INPP1",
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"hgvs_c": "c.-65+612C>T",
"hgvs_p": null,
"transcript": "ENST00000956161.1",
"protein_id": "ENSP00000626220.1",
"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": "ENST00000956161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP1",
"gene_hgnc_id": 6071,
"hgvs_c": "c.-65+612C>T",
"hgvs_p": null,
"transcript": "ENST00000956162.1",
"protein_id": "ENSP00000626221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
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"message": null
}