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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: 3-121740742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121740742&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121740742,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000614479.5",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "NM_001366282.2",
"protein_id": "NP_001353211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3264,
"cds_start": -4,
"cds_end": null,
"cds_length": 9795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": "ENST00000614479.5",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "ENST00000614479.5",
"protein_id": "ENSP00000484083.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3264,
"cds_start": -4,
"cds_end": null,
"cds_length": 9795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": "NM_001366282.2",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "ENST00000393667.8",
"protein_id": "ENSP00000377275.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3269,
"cds_start": -4,
"cds_end": null,
"cds_length": 9810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11199,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "ENST00000340645.10",
"protein_id": "ENSP00000341848.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3259,
"cds_start": -4,
"cds_end": null,
"cds_length": 9780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11199,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "ENST00000494517.6",
"protein_id": "ENSP00000418231.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3223,
"cds_start": -4,
"cds_end": null,
"cds_length": 9672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.-3+8890C>T",
"hgvs_p": null,
"transcript": "ENST00000482512.6",
"protein_id": "ENSP00000419519.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 10319,
"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,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
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"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "NM_001256486.2",
"protein_id": "NP_001243415.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-3+8890C>T",
"hgvs_p": null,
"transcript": "NM_004487.5",
"protein_id": "NP_004478.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3259,
"cds_start": -4,
"cds_end": null,
"cds_length": 9780,
"cdna_start": null,
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"cdna_length": 11171,
"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": 22,
"intron_rank": 1,
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"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.-148+8890C>T",
"hgvs_p": null,
"transcript": "NM_001256487.2",
"protein_id": "NP_001243416.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "GOLGB1",
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"transcript": "NM_001389631.1",
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},
{
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],
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"gene_symbol": "GOLGB1",
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],
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}
],
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}