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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: 5-59597693-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=59597693&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 59597693,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000340635.11",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.455+295475C>A",
"hgvs_p": null,
"transcript": "NM_001104631.2",
"protein_id": "NP_001098101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8160,
"mane_select": "ENST00000340635.11",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.455+295475C>A",
"hgvs_p": null,
"transcript": "ENST00000340635.11",
"protein_id": "ENSP00000345502.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8160,
"mane_select": "NM_001104631.2",
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.273-381725C>A",
"hgvs_p": null,
"transcript": "ENST00000502484.6",
"protein_id": "ENSP00000423094.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.263+170554C>A",
"hgvs_p": null,
"transcript": "ENST00000507116.6",
"protein_id": "ENSP00000424852.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8203,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.263+170554C>A",
"hgvs_p": null,
"transcript": "ENST00000502575.1",
"protein_id": "ENSP00000425917.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "n.263+170554C>A",
"hgvs_p": null,
"transcript": "ENST00000309641.10",
"protein_id": "ENSP00000308485.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2025,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.273-381725C>A",
"hgvs_p": null,
"transcript": "NM_001165899.2",
"protein_id": "NP_001159371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8086,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.273-381725C>A",
"hgvs_p": null,
"transcript": "NM_001364599.1",
"protein_id": "NP_001351528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8110,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.263+170554C>A",
"hgvs_p": null,
"transcript": "NM_001197218.2",
"protein_id": "NP_001184147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
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"cdna_length": 8203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.243-381725C>A",
"hgvs_p": null,
"transcript": "NM_001349241.2",
"protein_id": "NP_001336170.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": 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": 17,
"intron_rank": 4,
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"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.-239-381725C>A",
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"transcript": "NM_001349243.2",
"protein_id": "NP_001336172.1",
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},
{
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"consequences": [
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "PDE4D",
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"hgvs_c": "c.273-381725C>A",
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"transcript": "NM_001364600.2",
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},
{
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],
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"gene_symbol": "PDE4D",
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"hgvs_c": "c.263+170554C>A",
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},
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],
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"hgvs_c": "c.263+170554C>A",
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"transcript": "NM_001364601.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "PDE4D",
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"hgvs_c": "n.118+295475C>A",
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"transcript": "ENST00000405053.7",
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},
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],
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"gene_symbol": "PDE4D",
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"hgvs_c": "n.218-36779C>A",
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"transcript": "ENST00000512069.6",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "n.218+199367C>A",
"hgvs_p": null,
"transcript": "ENST00000514231.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PDE4D",
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"hgvs_c": "c.420-381725C>A",
"hgvs_p": null,
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"protein_id": "XP_011541771.1",
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},
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],
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"gene_symbol": "PDE4D",
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},
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"consequences": [
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],
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"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.273-381725C>A",
"hgvs_p": null,
"transcript": "XM_017009566.1",
"protein_id": "XP_016865055.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
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"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.273-381725C>A",
"hgvs_p": null,
"transcript": "XM_024446112.2",
"protein_id": "XP_024301880.1",
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}