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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: 1-160323536-GAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160323536&ref=GAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160323536,
"ref": "GAA",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001098398.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "NM_004371.4",
"protein_id": "NP_004362.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000241704.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004371.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000241704.8",
"protein_id": "ENSP00000241704.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004371.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241704.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000368069.7",
"protein_id": "ENSP00000357048.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368069.7"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.620_621delTT",
"hgvs_p": "p.Phe207fs",
"transcript": "ENST00000971420.1",
"protein_id": "ENSP00000641479.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1231,
"cds_start": 620,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "NM_001098398.2",
"protein_id": "NP_001091868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098398.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.601-8_601-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971414.1",
"protein_id": "ENSP00000641473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": null,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.625-8_625-7delTT",
"hgvs_p": null,
"transcript": "ENST00000890164.1",
"protein_id": "ENSP00000560223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": null,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.616-8_616-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971418.1",
"protein_id": "ENSP00000641477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.601-8_601-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971415.1",
"protein_id": "ENSP00000641474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971416.1",
"protein_id": "ENSP00000641475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000890165.1",
"protein_id": "ENSP00000560224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.526-8_526-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971422.1",
"protein_id": "ENSP00000641481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1206,
"cds_start": null,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000647683.1",
"protein_id": "ENSP00000497495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
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"cds_length": 3615,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647683.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000649787.1",
"protein_id": "ENSP00000497231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.526-8_526-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971417.1",
"protein_id": "ENSP00000641476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1197,
"cds_start": null,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971417.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000911819.1",
"protein_id": "ENSP00000581878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": null,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911819.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000911818.1",
"protein_id": "ENSP00000581877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null,
"transcript": "ENST00000911820.1",
"protein_id": "ENSP00000581879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": null,
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"cds_length": 3480,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911820.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.496+8910_496+8911delTT",
"hgvs_p": null,
"transcript": "ENST00000911817.1",
"protein_id": "ENSP00000581876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": null,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911817.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.346-8_346-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971419.1",
"protein_id": "ENSP00000641478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": null,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.229-8_229-7delTT",
"hgvs_p": null,
"transcript": "ENST00000971421.1",
"protein_id": "ENSP00000641480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.154-8_154-7delTT",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098398.2",
"gene_symbol": "COPA",
"hgnc_id": 2230,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.607-8_607-7delTT",
"hgvs_p": null
}
],
"clinvar_disease": "Autoimmune interstitial lung disease-arthritis syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autoimmune interstitial lung disease-arthritis syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}