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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: 12-106872051-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106872051&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106872051,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000392837.9",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1571+1109T>G",
"hgvs_p": null,
"transcript": "NM_001330145.2",
"protein_id": "NP_001317074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": "ENST00000392837.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1571+1109T>G",
"hgvs_p": null,
"transcript": "ENST00000392837.9",
"protein_id": "ENSP00000376582.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": "NM_001330145.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1451+11639T>G",
"hgvs_p": null,
"transcript": "ENST00000392839.6",
"protein_id": "ENSP00000376583.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1451+1109T>G",
"hgvs_p": null,
"transcript": "ENST00000355478.6",
"protein_id": "ENSP00000347662.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1547+1109T>G",
"hgvs_p": null,
"transcript": "NM_001351361.2",
"protein_id": "NP_001338290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1523+1109T>G",
"hgvs_p": null,
"transcript": "NM_001330146.2",
"protein_id": "NP_001317075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1571+1109T>G",
"hgvs_p": null,
"transcript": "NM_001330147.2",
"protein_id": "NP_001317076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
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"cds_length": 1611,
"cdna_start": null,
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"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1451+11639T>G",
"hgvs_p": null,
"transcript": "NM_018157.4",
"protein_id": "NP_060627.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1427+11639T>G",
"hgvs_p": null,
"transcript": "NM_001351362.2",
"protein_id": "NP_001338291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": 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": 7,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1403+11639T>G",
"hgvs_p": null,
"transcript": "NM_001351363.2",
"protein_id": "NP_001338292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1451+1109T>G",
"hgvs_p": null,
"transcript": "NM_001351364.2",
"protein_id": "NP_001338293.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "RIC8B",
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"hgvs_c": "c.1307+1109T>G",
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"transcript": "NM_001351366.2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
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"transcript": "NM_001351367.2",
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "RIC8B",
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"hgvs_c": "c.-20+11639T>G",
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"transcript": "ENST00000549643.5",
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},
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],
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"intron_rank": 9,
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.1571+1109T>G",
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"transcript": "ENST00000462949.5",
"protein_id": "ENSP00000435301.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.*197+1109T>G",
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"transcript": "ENST00000470960.1",
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},
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],
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.120-981T>G",
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"transcript": "ENST00000546449.2",
"protein_id": "ENSP00000464118.1",
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},
{
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"strand": true,
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],
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1635+1109T>G",
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"transcript": "NR_147131.2",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "RIC8B",
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"hgvs_c": "n.1371-2430T>G",
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"transcript": "NR_147132.2",
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},
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],
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"gene_symbol": "RIC8B",
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},
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],
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1638+3628T>G",
"hgvs_p": null,
"transcript": "NR_147135.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
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"hgvs_c": "n.1490+1109T>G",
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},
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}
],
"message": null
}