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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: 8-19682611-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19682611&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19682611,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000692225.2",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+74575G>A",
"hgvs_p": null,
"transcript": "NM_001354483.2",
"protein_id": "NP_001341412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "ENST00000692225.2",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+74575G>A",
"hgvs_p": null,
"transcript": "ENST00000692225.2",
"protein_id": "ENSP00000509853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "NM_001354483.2",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+32274G>A",
"hgvs_p": null,
"transcript": "NM_001354475.2",
"protein_id": "NP_001341404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+75239G>A",
"hgvs_p": null,
"transcript": "NM_001354476.2",
"protein_id": "NP_001341405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3668,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-547+75239G>A",
"hgvs_p": null,
"transcript": "NM_001354477.2",
"protein_id": "NP_001341406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3823,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-695+75239G>A",
"hgvs_p": null,
"transcript": "NM_001354480.2",
"protein_id": "NP_001341409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3971,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-552+75239G>A",
"hgvs_p": null,
"transcript": "NM_001354481.2",
"protein_id": "NP_001341410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3828,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+32274G>A",
"hgvs_p": null,
"transcript": "NM_001354484.2",
"protein_id": "NP_001341413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3841,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-547+74575G>A",
"hgvs_p": null,
"transcript": "NM_001354485.2",
"protein_id": "NP_001341414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
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"cdna_length": 3856,
"mane_select": 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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-552+74575G>A",
"hgvs_p": null,
"transcript": "NM_001354487.2",
"protein_id": "NP_001341416.1",
"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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"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+49845G>A",
"hgvs_p": null,
"transcript": "NM_001354488.2",
"protein_id": "NP_001341417.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "CSGALNACT1",
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"transcript": "NM_001354489.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CSGALNACT1",
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"hgvs_c": "c.-392+74328G>A",
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"transcript": "NM_001354490.2",
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},
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],
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"gene_symbol": "CSGALNACT1",
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},
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],
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"transcript": "ENST00000695893.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CSGALNACT1",
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"hgvs_c": "c.-392+49845G>A",
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],
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"gene_symbol": "CSGALNACT1",
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"transcript": "ENST00000695895.1",
"protein_id": "ENSP00000512245.1",
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},
{
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],
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"gene_symbol": "CSGALNACT1",
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"hgvs_c": "c.-392+32274G>A",
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"transcript": "ENST00000695896.1",
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"hgvs_c": "c.-392+22150G>A",
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],
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},
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],
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"gene_symbol": "CSGALNACT1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-297+75239G>A",
"hgvs_p": null,
"transcript": "ENST00000517494.1",
"protein_id": "ENSP00000429130.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.-392+74575G>A",
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"protein_id": "ENSP00000427740.1",
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}