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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: 5-140698056-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140698056&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HARS2",
"hgnc_id": 4817,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001363535.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_score": 3,
"allele_count_reference_population": 192,
"alphamissense_prediction": null,
"alphamissense_score": 0.4496,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Perrault syndrome,Sensorineural hearing loss disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9071769714355469,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_012208.4",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230771.9",
"protein_coding": true,
"protein_id": "NP_036340.1",
"strand": true,
"transcript": "NM_012208.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000230771.9",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012208.4",
"protein_coding": true,
"protein_id": "ENSP00000230771.3",
"strand": true,
"transcript": "ENST00000230771.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000926034.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596093.1",
"strand": true,
"transcript": "ENST00000926034.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001363535.2",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350464.1",
"strand": true,
"transcript": "NM_001363535.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645065.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493571.1",
"strand": true,
"transcript": "ENST00000645065.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000646468.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494965.1",
"strand": true,
"transcript": "ENST00000646468.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000645749.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494296.1",
"strand": true,
"transcript": "ENST00000645749.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000926031.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Arg469His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596090.1",
"strand": true,
"transcript": "ENST00000926031.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278731.2",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265660.1",
"strand": true,
"transcript": "NM_001278731.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000508522.5",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423616.1",
"strand": true,
"transcript": "ENST00000508522.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000642752.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493630.1",
"strand": true,
"transcript": "ENST00000642752.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926033.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596092.1",
"strand": true,
"transcript": "ENST00000926033.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879977.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550036.1",
"strand": true,
"transcript": "ENST00000879977.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001363536.2",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350465.1",
"strand": true,
"transcript": "NM_001363536.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000642970.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496011.1",
"strand": true,
"transcript": "ENST00000642970.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643996.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495350.1",
"strand": true,
"transcript": "ENST00000643996.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879976.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550035.1",
"strand": true,
"transcript": "ENST00000879976.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 407,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1224,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943806.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613865.1",
"strand": true,
"transcript": "ENST00000943806.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 399,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503873.6",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424516.2",
"strand": true,
"transcript": "ENST00000503873.6",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879978.1",
"gene_hgnc_id": 4817,
"gene_symbol": "HARS2",
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550037.1",
"strand": true,
"transcript": "ENST00000879978.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278732.2",
"gene_hgnc_id": 4817,
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}