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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: 7-134753773-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134753773&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134753773,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001438769.1",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+42176A>C",
"hgvs_p": null,
"transcript": "NM_001438769.1",
"protein_id": "NP_001425698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4307,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+39588A>C",
"hgvs_p": null,
"transcript": "NM_001438770.1",
"protein_id": "NP_001425699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4404,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+42176A>C",
"hgvs_p": null,
"transcript": "NM_001438778.1",
"protein_id": "NP_001425707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+39588A>C",
"hgvs_p": null,
"transcript": "NM_001438779.1",
"protein_id": "NP_001425708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4326,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+8201A>C",
"hgvs_p": null,
"transcript": "NM_001438780.1",
"protein_id": "NP_001425709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+9410A>C",
"hgvs_p": null,
"transcript": "ENST00000417172.5",
"protein_id": "ENSP00000398826.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
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"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+8201A>C",
"hgvs_p": null,
"transcript": "NM_001438784.1",
"protein_id": "NP_001425713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
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"cdna_start": null,
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"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+8201A>C",
"hgvs_p": null,
"transcript": "ENST00000436461.6",
"protein_id": "ENSP00000411476.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1614,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286458",
"gene_hgnc_id": null,
"hgvs_c": "n.302-10525T>G",
"hgvs_p": null,
"transcript": "ENST00000772186.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000286458",
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"hgvs_c": "n.347-1806T>G",
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"transcript": "ENST00000772188.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000286458",
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"hgvs_c": "n.155-10525T>G",
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"transcript": "ENST00000772189.1",
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},
{
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],
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],
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],
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],
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},
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],
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},
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],
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],
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],
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},
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],
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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{
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{
"score": -2,
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],
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}
],
"message": null
}