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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: 22-41518528-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41518528&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41518528,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000216254.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser",
"transcript": "NM_001098.3",
"protein_id": "NP_001089.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 780,
"cds_start": 988,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "ENST00000216254.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser",
"transcript": "ENST00000216254.9",
"protein_id": "ENSP00000216254.4",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 780,
"cds_start": 988,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "NM_001098.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Pro355Ser",
"transcript": "ENST00000396512.3",
"protein_id": "ENSP00000379769.3",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Pro355Ser",
"transcript": "ENST00000678269.1",
"protein_id": "ENSP00000504150.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Pro338Ser",
"transcript": "ENST00000677532.1",
"protein_id": "ENSP00000503471.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 788,
"cds_start": 1012,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Pro325Ser",
"transcript": "ENST00000678788.1",
"protein_id": "ENSP00000504684.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 775,
"cds_start": 973,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Pro297Ser",
"transcript": "ENST00000676748.1",
"protein_id": "ENSP00000503371.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 747,
"cds_start": 889,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Pro297Ser",
"transcript": "ENST00000677153.1",
"protein_id": "ENSP00000504453.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 747,
"cds_start": 889,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Pro275Ser",
"transcript": "ENST00000676792.1",
"protein_id": "ENSP00000503590.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 725,
"cds_start": 823,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser",
"transcript": "ENST00000677554.1",
"protein_id": "ENSP00000504513.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 716,
"cds_start": 988,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser",
"transcript": "ENST00000466237.2",
"protein_id": "ENSP00000504719.1",
"transcript_support_level": 3,
"aa_start": 330,
"aa_end": null,
"aa_length": 422,
"cds_start": 988,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.*568C>T",
"hgvs_p": null,
"transcript": "ENST00000676664.1",
"protein_id": "ENSP00000503709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.*906C>T",
"hgvs_p": null,
"transcript": "ENST00000676714.1",
"protein_id": "ENSP00000504699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1236C>T",
"hgvs_p": null,
"transcript": "ENST00000676822.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.988C>T",
"hgvs_p": null,
"transcript": "ENST00000676959.1",
"protein_id": "ENSP00000504377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1018C>T",
"hgvs_p": null,
"transcript": "ENST00000677427.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1947C>T",
"hgvs_p": null,
"transcript": "ENST00000677492.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.*1152C>T",
"hgvs_p": null,
"transcript": "ENST00000677698.1",
"protein_id": "ENSP00000503913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1703C>T",
"hgvs_p": null,
"transcript": "ENST00000678394.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1556C>T",
"hgvs_p": null,
"transcript": "ENST00000678454.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.1029C>T",
"hgvs_p": null,
"transcript": "ENST00000678600.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.*224C>T",
"hgvs_p": null,
"transcript": "ENST00000678688.1",
"protein_id": "ENSP00000503990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "n.*851C>T",
"hgvs_p": null,
"transcript": "ENST00000678819.1",
"protein_id": "ENSP00000503199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}
],
"gene_symbol": "ACO2",
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"dbsnp": "rs150129663",
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"gnomad_exomes_af": 0.0000157362,
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"gnomad_genomes_homalt": 0,
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"computational_score_selected": 0.028281033039093018,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.474,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000216254.9",
"gene_symbol": "ACO2",
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"effects": [
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],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "Inborn genetic diseases|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}