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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: 8-26354481-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=26354481&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 26354481,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001177591.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Phe",
"transcript": "NM_002717.4",
"protein_id": "NP_002708.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 447,
"cds_start": 194,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380737.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002717.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Phe",
"transcript": "ENST00000380737.8",
"protein_id": "ENSP00000370113.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 447,
"cds_start": 194,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002717.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380737.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"transcript": "NM_001177591.2",
"protein_id": "NP_001171062.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 457,
"cds_start": 224,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177591.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"transcript": "ENST00000315985.7",
"protein_id": "ENSP00000325074.7",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 457,
"cds_start": 224,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315985.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Phe",
"transcript": "ENST00000919755.1",
"protein_id": "ENSP00000589814.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 421,
"cds_start": 194,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919755.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Phe",
"transcript": "ENST00000885492.1",
"protein_id": "ENSP00000555551.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 276,
"cds_start": 194,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885492.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000957406.1",
"protein_id": "ENSP00000627465.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 275,
"cds_start": 191,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957406.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ser74Phe",
"transcript": "XM_011544565.2",
"protein_id": "XP_011542867.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 456,
"cds_start": 221,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544565.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "XM_005273559.2",
"protein_id": "XP_005273616.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 446,
"cds_start": 191,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273559.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ser45Phe",
"transcript": "XM_024447186.2",
"protein_id": "XP_024302954.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 427,
"cds_start": 134,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447186.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"transcript": "XM_047421936.1",
"protein_id": "XP_047277892.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 279,
"cds_start": 224,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-249C>T",
"hgvs_p": null,
"transcript": "ENST00000665949.1",
"protein_id": "ENSP00000499648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "ENST00000660435.1",
"protein_id": "ENSP00000499441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "ENST00000521557.5",
"protein_id": "ENSP00000428165.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 42,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521557.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "ENST00000523925.5",
"protein_id": "ENSP00000428800.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 4,
"cds_start": null,
"cds_end": null,
"cds_length": 16,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523925.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "ENST00000522535.5",
"protein_id": "ENSP00000428705.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 2,
"cds_start": null,
"cds_end": null,
"cds_length": 10,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522535.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "XM_024447187.2",
"protein_id": "XP_024302955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447187.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "XM_047421933.1",
"protein_id": "XP_047277889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "XM_047421934.1",
"protein_id": "XP_047277890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-284C>T",
"hgvs_p": null,
"transcript": "XM_047421935.1",
"protein_id": "XP_047277891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421935.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.-77-6620C>T",
"hgvs_p": null,
"transcript": "ENST00000524169.5",
"protein_id": "ENSP00000430320.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524169.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.63C>T",
"hgvs_p": null,
"transcript": "ENST00000518215.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000518215.5"
},
{
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.15216031670570374,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_001177591.2",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}