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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: 14-24145152-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24145152&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24145152,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002818.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_002818.3",
"protein_id": "NP_002809.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 239,
"cds_start": 266,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216802.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002818.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000216802.10",
"protein_id": "ENSP00000216802.5",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 239,
"cds_start": 266,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216802.10"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.311A>G",
"hgvs_p": "p.His104Arg",
"transcript": "ENST00000615264.4",
"protein_id": "ENSP00000484569.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 254,
"cds_start": 311,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615264.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "ENST00000857133.1",
"protein_id": "ENSP00000527192.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 238,
"cds_start": 263,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857133.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000857134.1",
"protein_id": "ENSP00000527193.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 238,
"cds_start": 266,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857134.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000857135.1",
"protein_id": "ENSP00000527194.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 238,
"cds_start": 266,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857135.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.His87Arg",
"transcript": "ENST00000857142.1",
"protein_id": "ENSP00000527201.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 237,
"cds_start": 260,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857142.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000857143.1",
"protein_id": "ENSP00000527202.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 235,
"cds_start": 266,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857143.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.His78Arg",
"transcript": "ENST00000560410.5",
"protein_id": "ENSP00000453487.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 228,
"cds_start": 233,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560410.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.203A>G",
"hgvs_p": "p.His68Arg",
"transcript": "ENST00000857138.1",
"protein_id": "ENSP00000527197.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 218,
"cds_start": 203,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857138.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000857137.1",
"protein_id": "ENSP00000527196.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 210,
"cds_start": 266,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857137.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.His60Arg",
"transcript": "ENST00000857141.1",
"protein_id": "ENSP00000527200.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 210,
"cds_start": 179,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857141.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.His12Arg",
"transcript": "ENST00000559056.5",
"protein_id": "ENSP00000452940.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 84,
"cds_start": 35,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559056.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.His12Arg",
"transcript": "XM_006720213.3",
"protein_id": "XP_006720276.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 162,
"cds_start": 35,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720213.3"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.263-33A>G",
"hgvs_p": null,
"transcript": "ENST00000857139.1",
"protein_id": "ENSP00000527198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857139.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.231+227A>G",
"hgvs_p": null,
"transcript": "ENST00000857136.1",
"protein_id": "ENSP00000527195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857136.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.82-684A>G",
"hgvs_p": null,
"transcript": "ENST00000931636.1",
"protein_id": "ENSP00000601695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931636.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.49-684A>G",
"hgvs_p": null,
"transcript": "ENST00000857140.1",
"protein_id": "ENSP00000527199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857140.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "c.81+1056A>G",
"hgvs_p": null,
"transcript": "ENST00000931635.1",
"protein_id": "ENSP00000601694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "n.264A>G",
"hgvs_p": null,
"transcript": "ENST00000471700.6",
"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": "pseudogene",
"feature": "ENST00000471700.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "n.*270A>G",
"hgvs_p": null,
"transcript": "ENST00000558273.5",
"protein_id": "ENSP00000453195.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000558273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSME2",
"gene_hgnc_id": 9569,
"hgvs_c": "n.1709A>G",
"hgvs_p": null,
"transcript": "ENST00000558931.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000558931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}