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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: 11-22259674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22259674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Leu521Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_213599.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 913,
"aa_ref": "L",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_213599.3",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Leu521Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324559.9",
"protein_coding": true,
"protein_id": "NP_998764.1",
"strand": true,
"transcript": "NM_213599.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 913,
"aa_ref": "L",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000324559.9",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Leu521Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213599.3",
"protein_coding": true,
"protein_id": "ENSP00000315371.9",
"strand": true,
"transcript": "ENST00000324559.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 912,
"aa_ref": "L",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001142649.2",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Leu520Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136121.1",
"strand": true,
"transcript": "NM_001142649.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 899,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6700,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1521,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001410963.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1521G>A",
"hgvs_p": "p.Leu507Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397892.1",
"strand": true,
"transcript": "NM_001410963.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 899,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1521,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000682341.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1521G>A",
"hgvs_p": "p.Leu507Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508251.1",
"strand": true,
"transcript": "ENST00000682341.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "L",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6697,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001410964.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Leu506Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397893.1",
"strand": true,
"transcript": "NM_001410964.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "L",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000684663.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Leu506Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508009.1",
"strand": true,
"transcript": "ENST00000684663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 887,
"aa_ref": "L",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6569,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001441294.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Leu495Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428223.1",
"strand": true,
"transcript": "NM_001441294.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 886,
"aa_ref": "L",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1482,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001441295.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Leu494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428224.1",
"strand": true,
"transcript": "NM_001441295.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "L",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1470,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001441296.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Leu490Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428225.1",
"strand": true,
"transcript": "NM_001441296.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "L",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6642,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000950081.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1449G>A",
"hgvs_p": "p.Leu483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620140.1",
"strand": true,
"transcript": "ENST00000950081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "L",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6527,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1443,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001441297.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Leu481Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428226.1",
"strand": true,
"transcript": "NM_001441297.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 861,
"aa_ref": "L",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1407,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001441298.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1407G>A",
"hgvs_p": "p.Leu469Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428227.1",
"strand": true,
"transcript": "NM_001441298.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 861,
"aa_ref": "L",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1407,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878905.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1407G>A",
"hgvs_p": "p.Leu469Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548964.1",
"strand": true,
"transcript": "ENST00000878905.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6583,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001441299.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Leu468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428228.1",
"strand": true,
"transcript": "NM_001441299.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6011,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878904.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Leu468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548963.1",
"strand": true,
"transcript": "ENST00000878904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 795,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1521,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683197.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1521G>A",
"hgvs_p": "p.Leu507Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507641.1",
"strand": true,
"transcript": "ENST00000683197.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 794,
"aa_ref": "L",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000950082.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1206G>A",
"hgvs_p": "p.Leu402Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620141.1",
"strand": true,
"transcript": "ENST00000950082.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 763,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682266.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507766.1",
"strand": true,
"transcript": "ENST00000682266.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6713,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683411.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Leu371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508397.1",
"strand": true,
"transcript": "ENST00000683411.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6543,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
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