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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: 1-160296094-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160296094&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COPA",
"hgnc_id": 2230,
"hgvs_c": "c.2346C>A",
"hgvs_p": "p.Ser782Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001098398.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5282,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1136864721775055,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_004371.4",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000241704.8",
"protein_coding": true,
"protein_id": "NP_004362.2",
"strand": false,
"transcript": "NM_004371.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000241704.8",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004371.4",
"protein_coding": true,
"protein_id": "ENSP00000241704.7",
"strand": false,
"transcript": "ENST00000241704.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "S",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4664,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 3702,
"cds_start": 2346,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000368069.7",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2346C>A",
"hgvs_p": "p.Ser782Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357048.3",
"strand": false,
"transcript": "ENST00000368069.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "S",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 3702,
"cds_start": 2346,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001098398.2",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2346C>A",
"hgvs_p": "p.Ser782Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091868.1",
"strand": false,
"transcript": "NM_001098398.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "S",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5349,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2340,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971414.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2340C>A",
"hgvs_p": "p.Ser780Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641473.1",
"strand": false,
"transcript": "ENST00000971414.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "S",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2340,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971420.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2340C>A",
"hgvs_p": "p.Ser780Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641479.1",
"strand": false,
"transcript": "ENST00000971420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 3693,
"cds_start": 2337,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000890164.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2337C>A",
"hgvs_p": "p.Ser779Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560223.1",
"strand": false,
"transcript": "ENST00000890164.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "S",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 3684,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971418.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2328C>A",
"hgvs_p": "p.Ser776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641477.1",
"strand": false,
"transcript": "ENST00000971418.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "S",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 3669,
"cds_start": 2313,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971415.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2313C>A",
"hgvs_p": "p.Ser771Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641474.1",
"strand": false,
"transcript": "ENST00000971415.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971416.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641475.1",
"strand": false,
"transcript": "ENST00000971416.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 3642,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000890165.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560224.1",
"strand": false,
"transcript": "ENST00000890165.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "S",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 3621,
"cds_start": 2265,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000971422.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2265C>A",
"hgvs_p": "p.Ser755Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641481.1",
"strand": false,
"transcript": "ENST00000971422.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1204,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000647683.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497495.1",
"strand": false,
"transcript": "ENST00000647683.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "S",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2259,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000649787.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2259C>A",
"hgvs_p": "p.Ser753Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497231.1",
"strand": false,
"transcript": "ENST00000649787.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 3594,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000971417.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2238C>A",
"hgvs_p": "p.Ser746Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641476.1",
"strand": false,
"transcript": "ENST00000971417.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "S",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 3555,
"cds_start": 2199,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000911819.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2199C>A",
"hgvs_p": "p.Ser733Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581878.1",
"strand": false,
"transcript": "ENST00000911819.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4473,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 3510,
"cds_start": 2154,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000911818.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2154C>A",
"hgvs_p": "p.Ser718Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581877.1",
"strand": false,
"transcript": "ENST00000911818.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2319,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000911820.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2319C>A",
"hgvs_p": "p.Ser773Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581879.1",
"strand": false,
"transcript": "ENST00000911820.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1154,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 3465,
"cds_start": 2109,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000911817.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2109C>A",
"hgvs_p": "p.Ser703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581876.1",
"strand": false,
"transcript": "ENST00000911817.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "S",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4379,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2058,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000971419.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.2058C>A",
"hgvs_p": "p.Ser686Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641478.1",
"strand": false,
"transcript": "ENST00000971419.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "S",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1941,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000971421.1",
"gene_hgnc_id": 2230,
"gene_symbol": "COPA",
"hgvs_c": "c.1941C>A",
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