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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: 9-70548684-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70548684&ref=T&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "9",
"pos": 70548684,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000677713.2",
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3707+858A>T",
"hgvs_p": null,
"transcript": "NM_001366145.2",
"protein_id": "NP_001353074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": -4,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12320,
"mane_select": "ENST00000677713.2",
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3707+858A>T",
"hgvs_p": null,
"transcript": "ENST00000677713.2",
"protein_id": "ENSP00000503830.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": -4,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12320,
"mane_select": "NM_001366145.2",
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3671+858A>T",
"hgvs_p": null,
"transcript": "ENST00000377110.9",
"protein_id": "ENSP00000366314.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12258,
"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": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3671+858A>T",
"hgvs_p": null,
"transcript": "ENST00000377111.8",
"protein_id": "ENSP00000366315.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1325,
"cds_start": -4,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4618,
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3782+858A>T",
"hgvs_p": null,
"transcript": "NM_001366147.2",
"protein_id": "NP_001353076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1744,
"cds_start": -4,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12395,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3683+858A>T",
"hgvs_p": null,
"transcript": "ENST00000357533.7",
"protein_id": "ENSP00000350140.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1711,
"cds_start": -4,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5287,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3677+858A>T",
"hgvs_p": null,
"transcript": "NM_001366141.2",
"protein_id": "NP_001353070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": -4,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12159,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3677+858A>T",
"hgvs_p": null,
"transcript": "NM_001366149.2",
"protein_id": "NP_001353078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": -4,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12290,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3671+858A>T",
"hgvs_p": null,
"transcript": "NM_001007471.4",
"protein_id": "NP_001007472.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
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"cdna_length": 12284,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3605+858A>T",
"hgvs_p": null,
"transcript": "ENST00000707140.1",
"protein_id": "ENSP00000516762.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 5928,
"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": 26,
"intron_rank": 25,
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"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3287+858A>T",
"hgvs_p": null,
"transcript": "NM_206946.5",
"protein_id": "NP_996829.3",
"transcript_support_level": null,
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},
{
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{
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],
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"gene_symbol": "TRPM3",
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"hgvs_c": "c.3257+858A>T",
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"transcript": "NM_206947.5",
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"gene_symbol": "TRPM3",
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},
{
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"gene_symbol": "TRPM3",
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"gene_symbol": "TRPM3",
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"gene_symbol": "TRPM3",
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"gene_symbol": "TRPM3",
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"hgvs_c": "c.3182+858A>T",
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}
],
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}