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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: 5-178211959-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178211959&ref=T&alt=G&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": "PHYKPL",
"hgnc_id": 28249,
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_153373.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1046,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07177373766899109,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_153373.4",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308158.10",
"protein_coding": true,
"protein_id": "NP_699204.1",
"strand": false,
"transcript": "NM_153373.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000308158.10",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153373.4",
"protein_coding": true,
"protein_id": "ENSP00000310978.5",
"strand": false,
"transcript": "ENST00000308158.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000474052.5",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "n.*703A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423806.1",
"strand": false,
"transcript": "ENST00000474052.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000494126.6",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "n.1956A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494126.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000474052.5",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "n.*703A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423806.1",
"strand": false,
"transcript": "ENST00000474052.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 502,
"aa_ref": "K",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962530.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1471A>C",
"hgvs_p": "p.Lys491Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632589.1",
"strand": false,
"transcript": "ENST00000962530.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000323594.9",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Lys453Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321290.5",
"strand": false,
"transcript": "ENST00000323594.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885009.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1348A>C",
"hgvs_p": "p.Lys450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555068.1",
"strand": false,
"transcript": "ENST00000885009.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 460,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884991.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1345A>C",
"hgvs_p": "p.Lys449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555050.1",
"strand": false,
"transcript": "ENST00000884991.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 460,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885007.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1345A>C",
"hgvs_p": "p.Lys449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555066.1",
"strand": false,
"transcript": "ENST00000885007.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 460,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962531.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1345A>C",
"hgvs_p": "p.Lys449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632590.1",
"strand": false,
"transcript": "ENST00000962531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 456,
"aa_ref": "K",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884994.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1333A>C",
"hgvs_p": "p.Lys445Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555052.1",
"strand": false,
"transcript": "ENST00000884994.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884993.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555051.1",
"strand": false,
"transcript": "ENST00000884993.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885004.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555062.1",
"strand": false,
"transcript": "ENST00000885004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885014.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555073.1",
"strand": false,
"transcript": "ENST00000885014.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885015.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555074.1",
"strand": false,
"transcript": "ENST00000885015.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000962523.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632582.1",
"strand": false,
"transcript": "ENST00000962523.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962524.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Lys439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632583.1",
"strand": false,
"transcript": "ENST00000962524.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "K",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962527.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Lys438Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632586.1",
"strand": false,
"transcript": "ENST00000962527.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 443,
"aa_ref": "K",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884998.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Lys432Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555057.1",
"strand": false,
"transcript": "ENST00000884998.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 439,
"aa_ref": "K",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885005.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Lys428Gln",
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