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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: 2-239961195-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239961195&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239961195,
"ref": "GA",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000252711.7",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1000-10delT",
"hgvs_p": null,
"transcript": "NM_004544.4",
"protein_id": "NP_004535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000252711.7",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1000-10delT",
"hgvs_p": null,
"transcript": "ENST00000252711.7",
"protein_id": "ENSP00000252711.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_004544.4",
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1079-10delT",
"hgvs_p": null,
"transcript": "ENST00000677567.1",
"protein_id": "ENSP00000503217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1547,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1105-10delT",
"hgvs_p": null,
"transcript": "ENST00000404554.5",
"protein_id": "ENSP00000385697.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1048-10delT",
"hgvs_p": null,
"transcript": "ENST00000620965.5",
"protein_id": "ENSP00000480897.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1535,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1000-2159delT",
"hgvs_p": null,
"transcript": "ENST00000676491.1",
"protein_id": "ENSP00000504528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2716,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1000-22486delT",
"hgvs_p": null,
"transcript": "ENST00000676782.1",
"protein_id": "ENSP00000504717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": -4,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.997-10delT",
"hgvs_p": null,
"transcript": "ENST00000678455.1",
"protein_id": "ENSP00000504395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4849,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.1000-10178delT",
"hgvs_p": null,
"transcript": "ENST00000677407.1",
"protein_id": "ENSP00000503141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2546,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.898-10delT",
"hgvs_p": null,
"transcript": "ENST00000678914.1",
"protein_id": "ENSP00000504515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4798,
"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": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-10delT",
"hgvs_p": null,
"transcript": "NM_001322020.2",
"protein_id": "NP_001308949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
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"cds_length": 954,
"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,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-10delT",
"hgvs_p": null,
"transcript": "ENST00000679158.1",
"protein_id": "ENSP00000503837.1",
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"aa_start": null,
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"cds_start": -4,
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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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.826-10delT",
"hgvs_p": null,
"transcript": "ENST00000677294.1",
"protein_id": "ENSP00000503461.1",
"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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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.712-10delT",
"hgvs_p": null,
"transcript": "ENST00000443626.5",
"protein_id": "ENSP00000411527.1",
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"aa_start": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "c.294+28878delT",
"hgvs_p": null,
"transcript": "ENST00000419408.5",
"protein_id": "ENSP00000408055.1",
"transcript_support_level": 5,
"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": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.82-2159delT",
"hgvs_p": null,
"transcript": "ENST00000471378.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "NDUFA10",
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"hgvs_c": "n.4139-10delT",
"hgvs_p": null,
"transcript": "ENST00000476216.6",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.4064-10delT",
"hgvs_p": null,
"transcript": "ENST00000485344.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.1000-10delT",
"hgvs_p": null,
"transcript": "ENST00000676929.1",
"protein_id": "ENSP00000503956.1",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "n.4028+44014delT",
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},
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"strand": false,
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],
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"intron_rank": 8,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "n.*394-10delT",
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"transcript": "ENST00000677114.1",
"protein_id": "ENSP00000504818.1",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.*189-10delT",
"hgvs_p": null,
"transcript": "ENST00000677155.1",
"protein_id": "ENSP00000502921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.3497-10delT",
"hgvs_p": null,
"transcript": "ENST00000677324.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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{
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"BS2"
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}