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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: 1-160293457-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160293457&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160293457,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001098398.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2683T>A",
"hgvs_p": "p.Ser895Thr",
"transcript": "NM_004371.4",
"protein_id": "NP_004362.2",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2683,
"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": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2683T>A",
"hgvs_p": "p.Ser895Thr",
"transcript": "ENST00000241704.8",
"protein_id": "ENSP00000241704.7",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2683,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2710T>A",
"hgvs_p": "p.Ser904Thr",
"transcript": "ENST00000368069.7",
"protein_id": "ENSP00000357048.3",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2710,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2710T>A",
"hgvs_p": "p.Ser904Thr",
"transcript": "NM_001098398.2",
"protein_id": "NP_001091868.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2710,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2704T>A",
"hgvs_p": "p.Ser902Thr",
"transcript": "ENST00000971414.1",
"protein_id": "ENSP00000641473.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2704,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2704T>A",
"hgvs_p": "p.Ser902Thr",
"transcript": "ENST00000971420.1",
"protein_id": "ENSP00000641479.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2704,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2701T>A",
"hgvs_p": "p.Ser901Thr",
"transcript": "ENST00000890164.1",
"protein_id": "ENSP00000560223.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2701,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2692T>A",
"hgvs_p": "p.Ser898Thr",
"transcript": "ENST00000971418.1",
"protein_id": "ENSP00000641477.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2692,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2677T>A",
"hgvs_p": "p.Ser893Thr",
"transcript": "ENST00000971415.1",
"protein_id": "ENSP00000641474.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2677,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2662T>A",
"hgvs_p": "p.Ser888Thr",
"transcript": "ENST00000971416.1",
"protein_id": "ENSP00000641475.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2662,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2683T>A",
"hgvs_p": "p.Ser895Thr",
"transcript": "ENST00000890165.1",
"protein_id": "ENSP00000560224.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2683,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2629T>A",
"hgvs_p": "p.Ser877Thr",
"transcript": "ENST00000971422.1",
"protein_id": "ENSP00000641481.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2629,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2683T>A",
"hgvs_p": "p.Ser895Thr",
"transcript": "ENST00000647683.1",
"protein_id": "ENSP00000497495.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2683,
"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": "ENST00000647683.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2623T>A",
"hgvs_p": "p.Ser875Thr",
"transcript": "ENST00000649787.1",
"protein_id": "ENSP00000497231.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2623,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2602T>A",
"hgvs_p": "p.Ser868Thr",
"transcript": "ENST00000971417.1",
"protein_id": "ENSP00000641476.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971417.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2563T>A",
"hgvs_p": "p.Ser855Thr",
"transcript": "ENST00000911819.1",
"protein_id": "ENSP00000581878.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911819.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2518T>A",
"hgvs_p": "p.Ser840Thr",
"transcript": "ENST00000911818.1",
"protein_id": "ENSP00000581877.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2518,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2683T>A",
"hgvs_p": "p.Ser895Thr",
"transcript": "ENST00000911820.1",
"protein_id": "ENSP00000581879.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911820.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2473T>A",
"hgvs_p": "p.Ser825Thr",
"transcript": "ENST00000911817.1",
"protein_id": "ENSP00000581876.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2473,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911817.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2422T>A",
"hgvs_p": "p.Ser808Thr",
"transcript": "ENST00000971419.1",
"protein_id": "ENSP00000641478.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2422,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2305T>A",
"hgvs_p": "p.Ser769Thr",
"transcript": "ENST00000971421.1",
"protein_id": "ENSP00000641480.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2305,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2083T>A",
"hgvs_p": "p.Ser695Thr",
"transcript": "ENST00000649676.1",
"protein_id": "ENSP00000497257.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2083,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*249T>A",
"hgvs_p": null,
"transcript": "ENST00000696211.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000696211.1"
}
],
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"dbsnp": "rs139398871",
"frequency_reference_population": 6.9408486e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94085e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08145064115524292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098398.2",
"gene_symbol": "COPA",
"hgnc_id": 2230,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2710T>A",
"hgvs_p": "p.Ser904Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}