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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: 3-146460314-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146460314&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146460314,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000696113.1",
"consequences": [
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.-322A>G",
"hgvs_p": null,
"transcript": "ENST00000610787.5",
"protein_id": "ENSP00000478044.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1153,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.-179-231A>G",
"hgvs_p": null,
"transcript": "NM_001395437.1",
"protein_id": "NP_001382366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": "ENST00000696113.1",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.-179-231A>G",
"hgvs_p": null,
"transcript": "ENST00000696113.1",
"protein_id": "ENSP00000512407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": "NM_001395437.1",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.29-231A>G",
"hgvs_p": null,
"transcript": "ENST00000613069.4",
"protein_id": "ENSP00000478902.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1208,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.-292-30A>G",
"hgvs_p": null,
"transcript": "ENST00000336685.6",
"protein_id": "ENSP00000338707.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.41-231A>G",
"hgvs_p": null,
"transcript": "NM_001199978.3",
"protein_id": "NP_001186907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.41-231A>G",
"hgvs_p": null,
"transcript": "NM_001395440.1",
"protein_id": "NP_001382369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
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"cds_length": 894,
"cdna_start": null,
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"cdna_length": 1588,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.41-231A>G",
"hgvs_p": null,
"transcript": "ENST00000497985.5",
"protein_id": "ENSP00000420132.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1441,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.41-231A>G",
"hgvs_p": null,
"transcript": "ENST00000696119.1",
"protein_id": "ENSP00000512413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.29-231A>G",
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"transcript": "NM_001199979.1",
"protein_id": "NP_001186908.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.-179-231A>G",
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"transcript": "NM_001395438.1",
"protein_id": "NP_001382367.1",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "PLSCR2",
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"hgvs_c": "c.-292-30A>G",
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],
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],
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},
{
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],
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},
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},
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],
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"transcript": "NR_172561.1",
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},
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"gene_symbol": "PLSCR2",
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"hgvs_c": "c.41-231A>G",
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],
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],
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},
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"consequences": [
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],
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"gene_symbol": "PLSCR2",
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"hgvs_c": "c.41-231A>G",
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