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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: 2-161231044-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161231044&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161231044,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004180.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "NM_001199135.3",
"protein_id": "NP_001186064.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000392749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199135.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000392749.7",
"protein_id": "ENSP00000376505.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001199135.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392749.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000259075.6",
"protein_id": "ENSP00000259075.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259075.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "n.774T>C",
"hgvs_p": null,
"transcript": "ENST00000468831.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468831.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "ENST00000882703.1",
"protein_id": "ENSP00000552762.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 597,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882703.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "ENST00000882723.1",
"protein_id": "ENSP00000552782.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 597,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882723.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "ENST00000966218.1",
"protein_id": "ENSP00000636277.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 597,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966218.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "ENST00000966221.1",
"protein_id": "ENSP00000636280.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 597,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966221.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "ENST00000966225.1",
"protein_id": "ENSP00000636284.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 597,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966225.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "NM_004180.3",
"protein_id": "NP_004171.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004180.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882698.1",
"protein_id": "ENSP00000552757.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882698.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882699.1",
"protein_id": "ENSP00000552758.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882699.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882700.1",
"protein_id": "ENSP00000552759.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882700.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882701.1",
"protein_id": "ENSP00000552760.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882701.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882702.1",
"protein_id": "ENSP00000552761.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882702.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882704.1",
"protein_id": "ENSP00000552763.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882704.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882705.1",
"protein_id": "ENSP00000552764.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882705.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882706.1",
"protein_id": "ENSP00000552765.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882706.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882707.1",
"protein_id": "ENSP00000552766.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882707.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882708.1",
"protein_id": "ENSP00000552767.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882708.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882709.1",
"protein_id": "ENSP00000552768.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882709.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000882710.1",
"protein_id": "ENSP00000552769.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 425,
"cds_start": 594,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004180.3",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -16,
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"BS2"
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"verdict": "Benign",
"transcript": "ENST00000421122.8",
"gene_symbol": "PSMD14-DT",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}