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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: 1-110603676-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=110603676&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KCNA2",
"hgnc_id": 6220,
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_004974.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_score": -15,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 32,Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11829,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004974.4",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316361.10",
"protein_coding": true,
"protein_id": "NP_004965.1",
"strand": false,
"transcript": "NM_004974.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11829,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000316361.10",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004974.4",
"protein_coding": true,
"protein_id": "ENSP00000314520.4",
"strand": false,
"transcript": "ENST00000316361.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369770.7",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.894+213C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358785.3",
"strand": false,
"transcript": "ENST00000369770.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485317.6",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433109.1",
"strand": false,
"transcript": "ENST00000485317.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11877,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000633222.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487785.1",
"strand": false,
"transcript": "ENST00000633222.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638532.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491613.1",
"strand": false,
"transcript": "ENST00000638532.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11995,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638616.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491977.1",
"strand": false,
"transcript": "ENST00000638616.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12025,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675391.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502642.1",
"strand": false,
"transcript": "ENST00000675391.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851652.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521711.1",
"strand": false,
"transcript": "ENST00000851652.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851653.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521712.1",
"strand": false,
"transcript": "ENST00000851653.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851654.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521713.1",
"strand": false,
"transcript": "ENST00000851654.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
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"feature": "ENST00000851655.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521714.1",
"strand": false,
"transcript": "ENST00000851655.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 969,
"cds_end": null,
"cds_length": 1134,
"cds_start": 741,
"consequences": [
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],
"exon_count": 2,
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"exon_rank_end": null,
"feature": "ENST00000640956.1",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Val247Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491647.1",
"strand": false,
"transcript": "ENST00000640956.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 305,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11117,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 918,
"cds_start": 525,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639233.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Val175Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492716.1",
"strand": false,
"transcript": "ENST00000639233.2",
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},
{
"aa_alt": "V",
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"aa_length": 245,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10916,
"cdna_start": 820,
"cds_end": null,
"cds_length": 738,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639048.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Val115Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491627.1",
"strand": false,
"transcript": "ENST00000639048.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11831,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011541396.3",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539698.1",
"strand": false,
"transcript": "XM_011541396.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 499,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1674,
"cds_end": null,
"cds_length": 1500,
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"consequences": [
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],
"exon_count": 3,
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"exon_rank_end": null,
"feature": "XM_011541398.3",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011539700.1",
"strand": false,
"transcript": "XM_011541398.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1669,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011541400.3",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539702.1",
"strand": false,
"transcript": "XM_011541400.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 499,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11776,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017001213.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856702.1",
"strand": false,
"transcript": "XM_017001213.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204269.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.894+213C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191198.1",
"strand": false,
"transcript": "NM_001204269.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9428,
"cdna_start": null,
"cds_end": null,
"cds_length": 342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640774.2",
"gene_hgnc_id": 6220,
"gene_symbol": "KCNA2",
"hgvs_c": "c.132+213C>T",
"hgvs_p": null,
"intron_rank": 2,
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