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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: 2-102154881-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102154881&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102154881,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000410023.6",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_000877.4",
"protein_id": "NP_000868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "ENST00000410023.6",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "ENST00000410023.6",
"protein_id": "ENSP00000386380.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "NM_000877.4",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "ENST00000409929.5",
"protein_id": "ENSP00000386776.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001320978.2",
"protein_id": "NP_001307907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5052,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001320980.2",
"protein_id": "NP_001307909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5177,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001320981.2",
"protein_id": "NP_001307910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5036,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001320982.2",
"protein_id": "NP_001307911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5058,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001288706.2",
"protein_id": "NP_001275635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4959,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "ENST00000409288.5",
"protein_id": "ENSP00000386478.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "ENST00000409329.5",
"protein_id": "ENSP00000387131.1",
"transcript_support_level": 5,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-7+864C>G",
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"transcript": "ENST00000424272.5",
"protein_id": "ENSP00000415366.1",
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},
{
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],
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"transcript": "NM_001320983.1",
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},
{
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],
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-366+864C>G",
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},
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],
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"gene_symbol": "IL1R1",
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],
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},
{
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],
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"gene_symbol": "IL1R1",
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},
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],
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"hgvs_c": "c.-7+864C>G",
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"transcript": "ENST00000409589.5",
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},
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],
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-7+864C>G",
"hgvs_p": null,
"transcript": "NM_001320986.2",
"protein_id": "NP_001307915.1",
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},
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-7+864C>G",
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"transcript": "ENST00000442590.5",
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},
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],
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},
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],
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "IL1R1",
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"hgvs_c": "n.-7+864C>G",
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"transcript": "ENST00000413623.5",
"protein_id": "ENSP00000407017.1",
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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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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
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"hgvs_c": "c.-7+864C>G",
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"transcript": "XM_005263930.4",
"protein_id": "XP_005263987.1",
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