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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: 11-94650308-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94650308&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 94650308,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000536540.5",
"consequences": [
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.437+25328C>T",
"hgvs_p": null,
"transcript": "ENST00000536540.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 954,
"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": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.436+25328C>T",
"hgvs_p": null,
"transcript": "ENST00000537874.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.842-166G>A",
"hgvs_p": null,
"transcript": "ENST00000540151.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.316-166G>A",
"hgvs_p": null,
"transcript": "ENST00000542479.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.429-166G>A",
"hgvs_p": null,
"transcript": "ENST00000544019.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.1282-166G>A",
"hgvs_p": null,
"transcript": "ENST00000648581.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.508+25328C>T",
"hgvs_p": null,
"transcript": "ENST00000767899.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 723,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.557-11771C>T",
"hgvs_p": null,
"transcript": "ENST00000767901.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.255-166G>A",
"hgvs_p": null,
"transcript": "ENST00000768271.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 473,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.523+25328C>T",
"hgvs_p": null,
"transcript": "NR_135093.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "PIWIL4-AS1",
"gene_hgnc_id": 55493,
"hgvs_c": "n.436+25328C>T",
"hgvs_p": null,
"transcript": "NR_135094.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "PIWIL4-AS1",
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"hgvs_c": "n.523+25328C>T",
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"transcript": "NR_135096.1",
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},
{
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],
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"gene_symbol": "LINC02700",
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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": "LINC02700",
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"hgvs_c": "n.851-166G>A",
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],
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],
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"gene_symbol": "LINC02700",
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],
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LINC02700",
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"hgvs_c": "n.1105-166G>A",
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"transcript": "NR_187328.1",
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],
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],
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],
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},
{
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"intron_variant"
],
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"intron_rank": 5,
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"gene_symbol": "LINC02700",
"gene_hgnc_id": 54214,
"hgvs_c": "n.961-166G>A",
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"transcript": "NR_187332.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "LINC02700",
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{
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],
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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"inheritance_mode": "",
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{
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"verdict": "Benign",
"transcript": "ENST00000540151.6",
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],
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}