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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: X-72409062-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72409062&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72409062,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000373573.9",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "NM_018486.3",
"protein_id": "NP_060956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "ENST00000373573.9",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000373573.9",
"protein_id": "ENSP00000362674.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "NM_018486.3",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000373568.7",
"protein_id": "ENSP00000362669.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"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": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000648452.1",
"protein_id": "ENSP00000497268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"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": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "NM_001410725.1",
"protein_id": "NP_001397654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"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": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000647886.1",
"protein_id": "ENSP00000497188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1807,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.999+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000647980.1",
"protein_id": "ENSP00000498002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1700,
"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": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1005+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000647859.1",
"protein_id": "ENSP00000497530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.927+52942T>C",
"hgvs_p": null,
"transcript": "NM_001410727.1",
"protein_id": "NP_001397656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1676,
"mane_select": null,
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"biotype": null,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.927+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000373583.6",
"protein_id": "ENSP00000362685.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1006-23767T>C",
"hgvs_p": null,
"transcript": "ENST00000415409.6",
"protein_id": "ENSP00000396424.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.705+52942T>C",
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"transcript": "ENST00000648139.1",
"protein_id": "ENSP00000496818.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.732+52942T>C",
"hgvs_p": null,
"transcript": "NM_001410728.1",
"protein_id": "NP_001397657.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.732+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000647654.1",
"protein_id": "ENSP00000497568.1",
"transcript_support_level": null,
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.732+52942T>C",
"hgvs_p": null,
"transcript": "NM_001166418.2",
"protein_id": "NP_001159890.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.732+52942T>C",
"hgvs_p": null,
"transcript": "ENST00000373589.9",
"protein_id": "ENSP00000362691.4",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.705+52942T>C",
"hgvs_p": null,
"transcript": "NM_001441234.1",
"protein_id": "NP_001428163.1",
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},
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],
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.432+52942T>C",
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},
{
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"strand": false,
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],
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"intron_rank": 3,
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.402+52942T>C",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.250-14964T>C",
"hgvs_p": null,
"transcript": "ENST00000648276.1",
"protein_id": "ENSP00000497619.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.210-23767T>C",
"hgvs_p": null,
"transcript": "ENST00000650076.1",
"protein_id": "ENSP00000497022.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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{
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"verdict": "Benign",
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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}
],
"message": null
}