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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: 22-41527385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41527385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41527385,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001098.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "NM_001098.3",
"protein_id": "NP_001089.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 780,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216254.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000216254.9",
"protein_id": "ENSP00000216254.4",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 780,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216254.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*1898C>T",
"hgvs_p": null,
"transcript": "NM_001018050.4",
"protein_id": "NP_001018060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355209.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018050.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*1898C>T",
"hgvs_p": null,
"transcript": "ENST00000355209.9",
"protein_id": "ENSP00000347345.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355209.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln",
"transcript": "ENST00000878390.1",
"protein_id": "ENSP00000548449.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 852,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878390.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Arg711Gln",
"transcript": "ENST00000878384.1",
"protein_id": "ENSP00000548443.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 807,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878384.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709Gln",
"transcript": "ENST00000396512.3",
"protein_id": "ENSP00000379769.3",
"transcript_support_level": 5,
"aa_start": 709,
"aa_end": null,
"aa_length": 805,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396512.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709Gln",
"transcript": "ENST00000678269.1",
"protein_id": "ENSP00000504150.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 805,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678269.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704Gln",
"transcript": "ENST00000878386.1",
"protein_id": "ENSP00000548445.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 800,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878386.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2108G>A",
"hgvs_p": "p.Arg703Gln",
"transcript": "ENST00000923520.1",
"protein_id": "ENSP00000593579.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 799,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923520.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Arg692Gln",
"transcript": "ENST00000677532.1",
"protein_id": "ENSP00000503471.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 788,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677532.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"transcript": "ENST00000953703.1",
"protein_id": "ENSP00000623762.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 779,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953703.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682Gln",
"transcript": "ENST00000878389.1",
"protein_id": "ENSP00000548448.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 778,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878389.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682Gln",
"transcript": "ENST00000953708.1",
"protein_id": "ENSP00000623767.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 778,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953708.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000953707.1",
"protein_id": "ENSP00000623766.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 777,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953707.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"transcript": "ENST00000678788.1",
"protein_id": "ENSP00000504684.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 775,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678788.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662Gln",
"transcript": "ENST00000878387.1",
"protein_id": "ENSP00000548446.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 758,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878387.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "ENST00000953709.1",
"protein_id": "ENSP00000623768.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 749,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953709.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1952G>A",
"hgvs_p": "p.Arg651Gln",
"transcript": "ENST00000676748.1",
"protein_id": "ENSP00000503371.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 747,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676748.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1952G>A",
"hgvs_p": "p.Arg651Gln",
"transcript": "ENST00000677153.1",
"protein_id": "ENSP00000504453.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 747,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677153.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649Gln",
"transcript": "ENST00000878391.1",
"protein_id": "ENSP00000548450.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 745,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878391.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647Gln",
"transcript": "ENST00000953710.1",
"protein_id": "ENSP00000623769.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 743,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.131,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -1,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001098.3",
"gene_symbol": "ACO2",
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"effects": [
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],
"inheritance_mode": "AR,AD,Unknown,SD",
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{
"score": -5,
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"BS2"
],
"verdict": "Likely_benign",
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}
],
"clinvar_disease": "Inborn genetic diseases,Infantile cerebellar-retinal degeneration,Optic atrophy 9,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not provided|Infantile cerebellar-retinal degeneration;Optic atrophy 9|Infantile cerebellar-retinal degeneration|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}