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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: 15-72783537-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72783537&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72783537,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365225.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "NM_001365225.1",
"protein_id": "NP_001352154.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 497,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000456471.3",
"protein_id": "ENSP00000397694.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 497,
"cds_start": 155,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.155C>T",
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000957653.1",
"protein_id": "ENSP00000627712.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 511,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853936.1",
"protein_id": "ENSP00000523995.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 501,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853934.1",
"protein_id": "ENSP00000523993.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 500,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "NM_031284.5",
"protein_id": "NP_112574.3",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 496,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000311669.12",
"protein_id": "ENSP00000312250.8",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 496,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853929.1",
"protein_id": "ENSP00000523988.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 476,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853935.1",
"protein_id": "ENSP00000523994.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 476,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853931.1",
"protein_id": "ENSP00000523990.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 475,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000957652.1",
"protein_id": "ENSP00000627711.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 464,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853930.1",
"protein_id": "ENSP00000523989.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 463,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853937.1",
"protein_id": "ENSP00000523996.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 463,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000931831.1",
"protein_id": "ENSP00000601890.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 391,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000931832.1",
"protein_id": "ENSP00000601891.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 390,
"cds_start": 155,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "NM_001365227.1",
"protein_id": "NP_001352156.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 358,
"cds_start": 155,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365227.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853933.1",
"protein_id": "ENSP00000523992.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 358,
"cds_start": 155,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853933.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "NM_001365228.1",
"protein_id": "NP_001352157.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 357,
"cds_start": 155,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365228.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853928.1",
"protein_id": "ENSP00000523987.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 357,
"cds_start": 155,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853928.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Phe",
"transcript": "ENST00000853932.1",
"protein_id": "ENSP00000523991.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 337,
"cds_start": 155,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853932.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Phe",
"transcript": "ENST00000563907.5",
"protein_id": "ENSP00000456387.1",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 203,
"cds_start": 86,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563907.5"
},
{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365225.1",
"gene_symbol": "ADPGK",
"hgnc_id": 25250,
"effects": [
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"inheritance_mode": "AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563592.5",
"gene_symbol": "ADPGK-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.703G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}