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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: 15-72752570-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72752570&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72752570,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365225.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1265C>A",
"hgvs_p": "p.Thr422Asn",
"transcript": "NM_001365225.1",
"protein_id": "NP_001352154.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 497,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365225.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1265C>A",
"hgvs_p": "p.Thr422Asn",
"transcript": "ENST00000456471.3",
"protein_id": "ENSP00000397694.3",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 497,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365225.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.3378C>A",
"hgvs_p": null,
"transcript": "ENST00000562621.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000562621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*1238C>A",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*539C>A",
"hgvs_p": null,
"transcript": "ENST00000569693.5",
"protein_id": "ENSP00000457572.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000569693.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*1238C>A",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*539C>A",
"hgvs_p": null,
"transcript": "ENST00000569693.5",
"protein_id": "ENSP00000457572.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000569693.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Asn",
"transcript": "ENST00000957653.1",
"protein_id": "ENSP00000627712.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 511,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957653.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Thr426Asn",
"transcript": "ENST00000853936.1",
"protein_id": "ENSP00000523995.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 501,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853936.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1274C>A",
"hgvs_p": "p.Thr425Asn",
"transcript": "ENST00000853934.1",
"protein_id": "ENSP00000523993.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 500,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853934.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1262C>A",
"hgvs_p": "p.Thr421Asn",
"transcript": "NM_031284.5",
"protein_id": "NP_112574.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 496,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031284.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1262C>A",
"hgvs_p": "p.Thr421Asn",
"transcript": "ENST00000311669.12",
"protein_id": "ENSP00000312250.8",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 496,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311669.12"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Thr401Asn",
"transcript": "ENST00000853929.1",
"protein_id": "ENSP00000523988.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 476,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853929.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Thr401Asn",
"transcript": "ENST00000853935.1",
"protein_id": "ENSP00000523994.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 476,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853935.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1199C>A",
"hgvs_p": "p.Thr400Asn",
"transcript": "ENST00000853931.1",
"protein_id": "ENSP00000523990.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 475,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853931.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1166C>A",
"hgvs_p": "p.Thr389Asn",
"transcript": "ENST00000957652.1",
"protein_id": "ENSP00000627711.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 464,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957652.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1163C>A",
"hgvs_p": "p.Thr388Asn",
"transcript": "ENST00000853930.1",
"protein_id": "ENSP00000523989.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 463,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853930.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.1163C>A",
"hgvs_p": "p.Thr388Asn",
"transcript": "ENST00000853937.1",
"protein_id": "ENSP00000523996.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 463,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853937.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.947C>A",
"hgvs_p": "p.Thr316Asn",
"transcript": "ENST00000931831.1",
"protein_id": "ENSP00000601890.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 391,
"cds_start": 947,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931831.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.944C>A",
"hgvs_p": "p.Thr315Asn",
"transcript": "ENST00000931832.1",
"protein_id": "ENSP00000601891.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 390,
"cds_start": 944,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931832.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.899C>A",
"hgvs_p": "p.Thr300Asn",
"transcript": "NM_001365226.1",
"protein_id": "NP_001352155.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 375,
"cds_start": 899,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365226.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Thr299Asn",
"transcript": "NM_001365223.1",
"protein_id": "NP_001352152.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 374,
"cds_start": 896,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}