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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: 1-119140599-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119140599&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119140599,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015836.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "NM_015836.4",
"protein_id": "NP_056651.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 360,
"cds_start": 46,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000235521.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015836.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000235521.5",
"protein_id": "ENSP00000235521.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 360,
"cds_start": 46,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015836.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235521.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000369426.9",
"protein_id": "ENSP00000358434.5",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 220,
"cds_start": 46,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369426.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2-AS1",
"gene_hgnc_id": 40612,
"hgvs_c": "n.204T>A",
"hgvs_p": null,
"transcript": "ENST00000425884.7",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000425884.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2-AS1",
"gene_hgnc_id": 40612,
"hgvs_c": "n.175T>A",
"hgvs_p": null,
"transcript": "ENST00000440150.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000440150.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000928547.1",
"protein_id": "ENSP00000598606.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 381,
"cds_start": 46,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928547.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000900323.1",
"protein_id": "ENSP00000570382.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 341,
"cds_start": 46,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900323.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "NM_001378228.1",
"protein_id": "NP_001365157.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 303,
"cds_start": 46,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378228.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000900322.1",
"protein_id": "ENSP00000570381.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 303,
"cds_start": 46,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900322.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000900325.1",
"protein_id": "ENSP00000570384.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 284,
"cds_start": 46,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900325.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "NM_001378229.1",
"protein_id": "NP_001365158.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 274,
"cds_start": 46,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378229.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "ENST00000900324.1",
"protein_id": "ENSP00000570383.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 274,
"cds_start": 46,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900324.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "NM_201263.2",
"protein_id": "NP_957715.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 220,
"cds_start": 46,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201263.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "NM_001378231.1",
"protein_id": "NP_001365160.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 192,
"cds_start": 46,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378231.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "XM_017000038.2",
"protein_id": "XP_016855527.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 341,
"cds_start": 46,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000038.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Ile16Phe",
"transcript": "XM_047429105.1",
"protein_id": "XP_047285061.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 284,
"cds_start": 46,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.-109A>T",
"hgvs_p": null,
"transcript": "NM_001378226.1",
"protein_id": "NP_001365155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.-300A>T",
"hgvs_p": null,
"transcript": "NM_001378227.1",
"protein_id": "NP_001365156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.-428A>T",
"hgvs_p": null,
"transcript": "NM_001378230.1",
"protein_id": "NP_001365159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.-396A>T",
"hgvs_p": null,
"transcript": "XM_024449826.2",
"protein_id": "XP_024305594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449826.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.-524A>T",
"hgvs_p": null,
"transcript": "XM_024449860.2",
"protein_id": "XP_024305628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449860.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "n.56A>T",
"hgvs_p": null,
"transcript": "ENST00000495746.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000495746.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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{
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"verdict": "Uncertain_significance",
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{
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],
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}