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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: 21-45454831-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45454831&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45454831,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001379500.1",
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "NM_001379500.1",
"protein_id": "NP_001366429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651438.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379500.1"
},
{
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000651438.1",
"protein_id": "ENSP00000498485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379500.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651438.1"
},
{
"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": 43,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-914T>G",
"hgvs_p": null,
"transcript": "ENST00000859062.1",
"protein_id": "ENSP00000529121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": null,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859062.1"
},
{
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000930602.1",
"protein_id": "ENSP00000600661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1421,
"cds_start": null,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930602.1"
},
{
"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": 43,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000859069.1",
"protein_id": "ENSP00000529128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": null,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859069.1"
},
{
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000859068.1",
"protein_id": "ENSP00000529127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": null,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859068.1"
},
{
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000859063.1",
"protein_id": "ENSP00000529122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1357,
"cds_start": null,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859063.1"
},
{
"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": 43,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000859060.1",
"protein_id": "ENSP00000529119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1350,
"cds_start": null,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859060.1"
},
{
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000970099.1",
"protein_id": "ENSP00000640158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": null,
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"cds_length": 4011,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970099.1"
},
{
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000859066.1",
"protein_id": "ENSP00000529125.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1331,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859066.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 2,
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"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000930597.1",
"protein_id": "ENSP00000600656.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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],
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"gene_symbol": "COL18A1",
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"transcript": "ENST00000970097.1",
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"biotype": "protein_coding",
"feature": "ENST00000970097.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "COL18A1",
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"hgvs_c": "c.107-13411T>G",
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"transcript": "ENST00000859067.1",
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},
{
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],
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "COL18A1",
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"hgvs_c": "c.107-13411T>G",
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"transcript": "ENST00000930601.1",
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},
{
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],
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"gene_symbol": "COL18A1",
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},
{
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],
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"gene_symbol": "COL18A1",
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"hgvs_c": "c.107-13411T>G",
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"transcript": "ENST00000859064.1",
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},
{
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],
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"exon_count": 39,
"intron_rank": 2,
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"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000970098.1",
"protein_id": "ENSP00000640157.1",
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},
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],
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"hgvs_c": "c.107-13411T>G",
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},
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],
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},
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],
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"gene_symbol": "COL18A1",
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"hgvs_c": "c.107-13411T>G",
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"transcript": "ENST00000859065.1",
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"feature": "ENST00000859065.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.107-13411T>G",
"hgvs_p": null,
"transcript": "ENST00000930594.1",
"protein_id": "ENSP00000600653.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000930594.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}