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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: 1-161212882-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161212882&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161212882,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000676972.1",
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001377299.1",
"protein_id": "NP_001364228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "ENST00000676972.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000676972.1",
"protein_id": "ENSP00000503117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "NM_001377299.1",
"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": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000367993.7",
"protein_id": "ENSP00000356972.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2042,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000392179.5",
"protein_id": "ENSP00000376018.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.2085G>A",
"hgvs_p": null,
"transcript": "ENST00000677383.1",
"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": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.1432G>A",
"hgvs_p": null,
"transcript": "ENST00000677745.1",
"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": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.2000G>A",
"hgvs_p": null,
"transcript": "ENST00000678052.1",
"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": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.2694G>A",
"hgvs_p": null,
"transcript": "ENST00000678356.1",
"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": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.*139G>A",
"hgvs_p": null,
"transcript": "ENST00000678793.1",
"protein_id": "ENSP00000503431.1",
"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": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.1710G>A",
"hgvs_p": null,
"transcript": "ENST00000679215.1",
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "n.*139G>A",
"hgvs_p": null,
"transcript": "ENST00000678793.1",
"protein_id": "ENSP00000503431.1",
"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": 2626,
"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": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1179+228G>A",
"hgvs_p": null,
"transcript": "ENST00000677453.1",
"protein_id": "ENSP00000503604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1179+228G>A",
"hgvs_p": null,
"transcript": "ENST00000677846.1",
"protein_id": "ENSP00000504065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
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"cdna_length": 1939,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1179+228G>A",
"hgvs_p": null,
"transcript": "ENST00000677579.1",
"protein_id": "ENSP00000504162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001377298.1",
"protein_id": "NP_001364227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cds_length": 1392,
"cdna_start": null,
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"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_004550.5",
"protein_id": "NP_004541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000676600.1",
"protein_id": "ENSP00000503989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cds_length": 1392,
"cdna_start": null,
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"cdna_length": 1746,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000678507.1",
"protein_id": "ENSP00000504199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "ENST00000678511.1",
"protein_id": "ENSP00000504846.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001166159.2",
"protein_id": "NP_001159631.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 457,
"cds_start": -4,
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"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": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001377300.1",
"protein_id": "NP_001364229.1",
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"aa_start": null,
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"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": 11,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001377301.1",
"protein_id": "NP_001364230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2286,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NDUFS2",
"gene_hgnc_id": 7708,
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null,
"transcript": "NM_001377302.1",
"protein_id": "NP_001364231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
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"cds_length": 1374,
"cdna_start": null,
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"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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"inheritance_mode": "AR,Mitochondrial,Unknown",
"hgvs_c": "c.1116+402G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}