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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: 5-140675132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140675132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "HARS1",
"hgnc_id": 4816,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Ala399Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_002109.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 1306,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "Usher syndrome type 3B,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004740685224533081,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1196,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002109.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Ala399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000504156.7",
"protein_coding": true,
"protein_id": "NP_002100.2",
"strand": false,
"transcript": "NM_002109.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1196,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000504156.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Ala399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002109.6",
"protein_coding": true,
"protein_id": "ENSP00000425634.1",
"strand": false,
"transcript": "ENST00000504156.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000457527.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Ala379Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387893.2",
"strand": false,
"transcript": "ENST00000457527.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1313,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942727.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Ala438Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612786.1",
"strand": false,
"transcript": "ENST00000942727.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1208,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942728.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Ala403Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612787.1",
"strand": false,
"transcript": "ENST00000942728.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1196,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000507746.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Ala399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425889.2",
"strand": false,
"transcript": "ENST00000507746.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1196,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675204.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Ala399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501643.1",
"strand": false,
"transcript": "ENST00000675204.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1190,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937417.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607476.1",
"strand": false,
"transcript": "ENST00000937417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 492,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937418.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Ala379Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607477.1",
"strand": false,
"transcript": "ENST00000937418.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001258041.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Ala379Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244970.1",
"strand": false,
"transcript": "NM_001258041.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942725.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Ala379Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612784.1",
"strand": false,
"transcript": "ENST00000942725.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1109,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001289094.2",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Ala370Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276023.1",
"strand": false,
"transcript": "NM_001289094.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1088,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676327.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Ala363Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502594.1",
"strand": false,
"transcript": "ENST00000676327.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1076,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001258040.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244969.1",
"strand": false,
"transcript": "NM_001258040.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1076,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438307.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411511.2",
"strand": false,
"transcript": "ENST00000438307.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1070,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937419.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ala357Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607478.1",
"strand": false,
"transcript": "ENST00000937419.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1016,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001258042.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Ala339Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244971.1",
"strand": false,
"transcript": "NM_001258042.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1016,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000307633.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Ala339Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304668.3",
"strand": false,
"transcript": "ENST00000307633.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1323,
"cds_start": 989,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675698.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Ala330Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501581.1",
"strand": false,
"transcript": "ENST00000675698.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 438,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1317,
"cds_start": 974,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937415.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607474.1",
"strand": false,
"transcript": "ENST00000937415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 435,
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]
}