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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: 8-49955616-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=49955616&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 49955616,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000642720.2",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+43385T>A",
"hgvs_p": null,
"transcript": "NM_018967.5",
"protein_id": "NP_061840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": "ENST00000642720.2",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+43385T>A",
"hgvs_p": null,
"transcript": "ENST00000642720.2",
"protein_id": "ENSP00000493900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": "NM_018967.5",
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+44572T>A",
"hgvs_p": null,
"transcript": "ENST00000518864.5",
"protein_id": "ENSP00000429276.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-28+43385T>A",
"hgvs_p": null,
"transcript": "ENST00000517473.5",
"protein_id": "ENSP00000431123.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1703,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+44572T>A",
"hgvs_p": null,
"transcript": "NM_001287813.3",
"protein_id": "NP_001274742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5781,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-28+43385T>A",
"hgvs_p": null,
"transcript": "NM_001321773.2",
"protein_id": "NP_001308702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 6269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-28+43385T>A",
"hgvs_p": null,
"transcript": "NM_001287814.3",
"protein_id": "NP_001274743.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 480,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+43385T>A",
"hgvs_p": null,
"transcript": "ENST00000642164.1",
"protein_id": "ENSP00000494929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNTG1",
"gene_hgnc_id": 13740,
"hgvs_c": "c.-103+44572T>A",
"hgvs_p": null,
"transcript": "NM_001321775.2",
"protein_id": "NP_001308704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
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"cds_length": 1308,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SNTG1",
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"hgvs_c": "c.-103+43385T>A",
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"transcript": "NM_001321776.2",
"protein_id": "NP_001308705.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "SNTG1",
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"hgvs_c": "c.-28+43385T>A",
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},
{
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],
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"gene_symbol": "SNTG1",
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],
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},
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],
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],
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},
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"hgvs_c": "c.-185+43385T>A",
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],
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],
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},
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],
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