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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: 8-103561561-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=103561561&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 103561561,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001348484.3",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001348484.3",
"protein_id": "NP_001335413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1607,
"cds_start": -4,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7711,
"mane_select": "ENST00000696799.1",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "ENST00000696799.1",
"protein_id": "ENSP00000512879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1607,
"cds_start": -4,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7711,
"mane_select": "NM_001348484.3",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "ENST00000666250.1",
"protein_id": "ENSP00000499454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1592,
"cds_start": -4,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7564,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001395654.1",
"protein_id": "NP_001382583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9234,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001395652.1",
"protein_id": "NP_001382581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1558,
"cds_start": -4,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9228,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001348489.2",
"protein_id": "NP_001335418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9201,
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "ENST00000705945.1",
"protein_id": "ENSP00000516182.1",
"transcript_support_level": null,
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"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
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001348490.2",
"protein_id": "NP_001335419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1520,
"cds_start": -4,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
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"cdna_length": 9114,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.176+60499C>A",
"hgvs_p": null,
"transcript": "NM_001395653.1",
"protein_id": "NP_001382582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
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"cds_length": 4536,
"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "RIMS2",
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"hgvs_c": "c.176+60499C>A",
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"transcript": "ENST00000705943.1",
"protein_id": "ENSP00000516180.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "RIMS2",
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"hgvs_c": "c.176+60499C>A",
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],
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],
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],
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"gene_symbol": "RIMS2",
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},
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],
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