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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: 9-92271537-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92271537&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92271537,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378569.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_002161.6",
"protein_id": "NP_002152.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443024.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002161.6"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000443024.7",
"protein_id": "ENSP00000406448.4",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002161.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443024.7"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000375643.7",
"protein_id": "ENSP00000364794.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375643.7"
},
{
"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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "n.1109T>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447699.7"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1172T>G",
"hgvs_p": "p.Val391Gly",
"transcript": "NM_001378569.1",
"protein_id": "NP_001365498.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1172,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378569.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1172T>G",
"hgvs_p": "p.Val391Gly",
"transcript": "ENST00000935911.1",
"protein_id": "ENSP00000605970.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1172,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935911.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1130T>G",
"hgvs_p": "p.Val377Gly",
"transcript": "NM_001378571.1",
"protein_id": "NP_001365500.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1130,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378571.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378572.1",
"protein_id": "NP_001365501.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378572.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378573.1",
"protein_id": "NP_001365502.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378573.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378574.1",
"protein_id": "NP_001365503.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378574.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378575.1",
"protein_id": "NP_001365504.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378575.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378576.1",
"protein_id": "NP_001365505.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378576.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_013417.4",
"protein_id": "NP_038203.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013417.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000683565.1",
"protein_id": "ENSP00000507144.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683565.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000909316.1",
"protein_id": "ENSP00000579375.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909316.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000909317.1",
"protein_id": "ENSP00000579376.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909317.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000935912.1",
"protein_id": "ENSP00000605971.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935912.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378577.1",
"protein_id": "NP_001365506.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378577.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378578.1",
"protein_id": "NP_001365507.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378578.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378579.1",
"protein_id": "NP_001365508.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378579.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001378580.1",
"protein_id": "NP_001365509.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378580.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000683469.1",
"protein_id": "ENSP00000507286.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1109,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
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"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
}
],
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}