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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: 11-47248704-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47248704&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47248704,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001357016.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "NM_001610.4",
"protein_id": "NP_001601.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 86,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672073.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001610.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000672073.1",
"protein_id": "ENSP00000500291.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 86,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001610.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672073.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000256997.9",
"protein_id": "ENSP00000256997.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 86,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256997.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-100C>G",
"hgvs_p": null,
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616973.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.122C>G",
"hgvs_p": null,
"transcript": "ENST00000527464.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527464.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "NM_001357016.2",
"protein_id": "NP_001343945.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 434,
"cds_start": 86,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357016.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000672636.2",
"protein_id": "ENSP00000500571.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 434,
"cds_start": 86,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672636.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897036.1",
"protein_id": "ENSP00000567095.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 422,
"cds_start": 86,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897036.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897037.1",
"protein_id": "ENSP00000567096.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 422,
"cds_start": 86,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897037.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000919384.1",
"protein_id": "ENSP00000589443.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 409,
"cds_start": 86,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919384.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897033.1",
"protein_id": "ENSP00000567092.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 406,
"cds_start": 86,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897033.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897034.1",
"protein_id": "ENSP00000567093.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 406,
"cds_start": 86,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897034.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897035.1",
"protein_id": "ENSP00000567094.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 394,
"cds_start": 86,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897035.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "NM_001302490.2",
"protein_id": "NP_001289419.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 391,
"cds_start": 86,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302490.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000527256.7",
"protein_id": "ENSP00000432205.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 391,
"cds_start": 86,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527256.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000897038.1",
"protein_id": "ENSP00000567097.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 388,
"cds_start": 86,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897038.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "NM_001302491.2",
"protein_id": "NP_001289420.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 360,
"cds_start": 86,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302491.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000529444.7",
"protein_id": "ENSP00000436658.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 360,
"cds_start": 86,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529444.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000941444.1",
"protein_id": "ENSP00000611503.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 351,
"cds_start": 86,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941444.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000673604.1",
"protein_id": "ENSP00000500179.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 304,
"cds_start": 86,
"cds_end": null,
"cds_length": 916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673604.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"transcript": "ENST00000672787.1",
"protein_id": "ENSP00000500408.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 162,
"cds_start": 86,
"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": "ENST00000672787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-100C>G",
"hgvs_p": null,
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251934.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"5_prime_UTR_variant"
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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
}