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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: 9-92264962-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92264962&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92264962,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000443024.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_002161.6",
"protein_id": "NP_002152.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "ENST00000443024.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000443024.7",
"protein_id": "ENSP00000406448.4",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "NM_002161.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000375643.7",
"protein_id": "ENSP00000364794.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 4656,
"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": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "n.1667T>C",
"hgvs_p": null,
"transcript": "ENST00000447699.7",
"protein_id": "ENSP00000415020.3",
"transcript_support_level": 1,
"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": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Phe577Ser",
"transcript": "NM_001378569.1",
"protein_id": "NP_001365498.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1730,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1688T>C",
"hgvs_p": "p.Phe563Ser",
"transcript": "NM_001378571.1",
"protein_id": "NP_001365500.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1688,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378572.1",
"protein_id": "NP_001365501.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378573.1",
"protein_id": "NP_001365502.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378574.1",
"protein_id": "NP_001365503.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378575.1",
"protein_id": "NP_001365504.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378576.1",
"protein_id": "NP_001365505.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_013417.4",
"protein_id": "NP_038203.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000683565.1",
"protein_id": "ENSP00000507144.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378577.1",
"protein_id": "NP_001365506.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378578.1",
"protein_id": "NP_001365507.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378579.1",
"protein_id": "NP_001365508.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001378580.1",
"protein_id": "NP_001365509.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000683469.1",
"protein_id": "ENSP00000507286.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000683679.1",
"protein_id": "ENSP00000507577.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001374299.1",
"protein_id": "NP_001361228.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1667,
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"cds_length": 3714,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "NM_001374300.1",
"protein_id": "NP_001361229.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Phe556Ser",
"transcript": "ENST00000684557.1",
"protein_id": "ENSP00000508205.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1667,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
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}
],
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"computational_score_selected": 0.9625080823898315,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PP5"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000443024.7",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": " and hepatopathy, hypotonia, intellectual developmental disorder,Growth retardation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}