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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: 12-130806556-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=130806556&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 130806556,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000392373.7",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "NM_194356.4",
"protein_id": "NP_919337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": "ENST00000392373.7",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "ENST00000392373.7",
"protein_id": "ENSP00000376178.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": "NM_194356.4",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "ENST00000261653.11",
"protein_id": "ENSP00000261653.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "NM_001413775.1",
"protein_id": "NP_001400704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "NM_001980.5",
"protein_id": "NP_001971.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "NM_001351049.2",
"protein_id": "NP_001337978.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3254,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "ENST00000706282.1",
"protein_id": "ENSP00000516327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
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"cds_length": 834,
"cdna_start": null,
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"cdna_length": 3063,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.463+426G>C",
"hgvs_p": null,
"transcript": "NM_001351050.2",
"protein_id": "NP_001337979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1072,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.379+426G>C",
"hgvs_p": null,
"transcript": "NM_001413773.1",
"protein_id": "NP_001400702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
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"cdna_length": 3310,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.241+426G>C",
"hgvs_p": null,
"transcript": "NM_001351051.2",
"protein_id": "NP_001337980.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 213,
"cds_start": -4,
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"cds_length": 642,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
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"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.76+426G>C",
"hgvs_p": null,
"transcript": "NM_001351052.2",
"protein_id": "NP_001337981.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"transcript": "ENST00000344271.5",
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},
{
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"strand": false,
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],
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"gene_symbol": "STX2",
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"transcript": "ENST00000706278.1",
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},
{
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"strand": false,
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],
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],
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},
{
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],
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"gene_symbol": "STX2",
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],
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},
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],
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"hgvs_c": "n.463+426G>C",
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"transcript": "ENST00000706284.1",
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},
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"intron_rank": 5,
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"gene_symbol": "STX2",
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],
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],
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},
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],
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"gene_symbol": "STX2",
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"transcript": "NR_182217.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 10,
"intron_rank": 6,
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"gene_symbol": "STX2",
"gene_hgnc_id": 3403,
"hgvs_c": "c.559+426G>C",
"hgvs_p": null,
"transcript": "XM_047428491.1",
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},
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}
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}