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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: 5-140674735-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140674735&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140674735,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000504156.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Glu468Lys",
"transcript": "NM_002109.6",
"protein_id": "NP_002100.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": "ENST00000504156.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Glu468Lys",
"transcript": "ENST00000504156.7",
"protein_id": "ENSP00000425634.1",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": "NM_002109.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000457527.6",
"protein_id": "ENSP00000387893.2",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 489,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Glu468Lys",
"transcript": "ENST00000507746.7",
"protein_id": "ENSP00000425889.2",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 512,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Glu468Lys",
"transcript": "ENST00000675204.1",
"protein_id": "ENSP00000501643.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 511,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "NM_001258041.3",
"protein_id": "NP_001244970.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 489,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Glu439Lys",
"transcript": "NM_001289094.2",
"protein_id": "NP_001276023.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 480,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Glu432Lys",
"transcript": "ENST00000676327.1",
"protein_id": "ENSP00000502594.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 473,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Glu429Lys",
"transcript": "ENST00000675366.1",
"protein_id": "ENSP00000501747.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 470,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Glu428Lys",
"transcript": "NM_001258040.3",
"protein_id": "NP_001244969.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 469,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Glu428Lys",
"transcript": "ENST00000438307.6",
"protein_id": "ENSP00000411511.2",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 469,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Glu408Lys",
"transcript": "NM_001258042.3",
"protein_id": "NP_001244971.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 449,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Glu408Lys",
"transcript": "ENST00000307633.7",
"protein_id": "ENSP00000304668.3",
"transcript_support_level": 2,
"aa_start": 408,
"aa_end": null,
"aa_length": 449,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"transcript": "ENST00000675698.1",
"protein_id": "ENSP00000501581.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 440,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "NM_001289092.2",
"protein_id": "NP_001276021.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 435,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "ENST00000415192.6",
"protein_id": "ENSP00000411085.2",
"transcript_support_level": 2,
"aa_start": 394,
"aa_end": null,
"aa_length": 435,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "ENST00000675851.1",
"protein_id": "ENSP00000502624.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 399,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "NM_001289093.2",
"protein_id": "NP_001276022.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 395,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "ENST00000431330.7",
"protein_id": "ENSP00000393244.2",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 395,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Glu130Lys",
"transcript": "ENST00000509087.2",
"protein_id": "ENSP00000502781.1",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 171,
"cds_start": 388,
"cds_end": null,
"cds_length": 516,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.3015G>A",
"hgvs_p": null,
"transcript": "ENST00000504366.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.4147G>A",
"hgvs_p": null,
"transcript": "ENST00000506579.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.*1341G>A",
"hgvs_p": null,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Usher syndrome type 3B|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}