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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: 6-109641923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109641923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109641923,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000424296.7",
"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": 41,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "NM_001145128.3",
"protein_id": "NP_001138600.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1911,
"cds_start": -4,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": "ENST00000424296.7",
"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": 41,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "ENST00000424296.7",
"protein_id": "ENSP00000410186.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1911,
"cds_start": -4,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": "NM_001145128.3",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "ENST00000285397.9",
"protein_id": "ENSP00000285397.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2566,
"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": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "ENST00000368948.6",
"protein_id": "ENSP00000357944.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.1051-307G>A",
"hgvs_p": null,
"transcript": "NM_001329603.2",
"protein_id": "NP_001316532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3440,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "NM_001329602.2",
"protein_id": "NP_001316531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
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"cdna_length": 3223,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.835-307G>A",
"hgvs_p": null,
"transcript": "NM_145025.5",
"protein_id": "NP_659462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.604-307G>A",
"hgvs_p": null,
"transcript": "ENST00000448084.6",
"protein_id": "ENSP00000407510.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 831,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.495+2691G>A",
"hgvs_p": null,
"transcript": "ENST00000524674.5",
"protein_id": "ENSP00000431394.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": -4,
"cds_end": null,
"cds_length": 575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
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"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "n.1592-307G>A",
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"transcript": "NR_138057.2",
"protein_id": null,
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"aa_start": 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": 10,
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"gene_symbol": "AK9",
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"hgvs_c": "c.1051-307G>A",
"hgvs_p": null,
"transcript": "XM_011535550.3",
"protein_id": "XP_011533852.1",
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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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"gene_symbol": "AK9",
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],
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],
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},
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],
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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
}