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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: 3-44959354-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44959354&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 44959354,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000424952.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001135179.2",
"protein_id": "NP_001128651.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 299,
"cds_start": 83,
"cds_end": null,
"cds_length": 900,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 12594,
"mane_select": "ENST00000424952.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "ENST00000424952.7",
"protein_id": "ENSP00000395502.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 299,
"cds_start": 83,
"cds_end": null,
"cds_length": 900,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 12594,
"mane_select": "NM_001135179.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "ENST00000296127.7",
"protein_id": "ENSP00000296127.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 327,
"cds_start": 83,
"cds_end": null,
"cds_length": 984,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001349376.2",
"protein_id": "NP_001336305.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 357,
"cds_start": 83,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "ENST00000705994.1",
"protein_id": "ENSP00000516198.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 357,
"cds_start": 83,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001330761.2",
"protein_id": "NP_001317690.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 333,
"cds_start": 83,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 12696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "ENST00000342790.8",
"protein_id": "ENSP00000345268.4",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 333,
"cds_start": 83,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001349377.2",
"protein_id": "NP_001336306.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 83,
"cds_end": null,
"cds_length": 990,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "ENST00000339420.7",
"protein_id": "ENSP00000404108.2",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 83,
"cds_end": null,
"cds_length": 990,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_016598.3",
"protein_id": "NP_057682.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 327,
"cds_start": 83,
"cds_end": null,
"cds_length": 984,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 12678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001349380.2",
"protein_id": "NP_001336309.1",
"transcript_support_level": null,
"aa_start": 28,
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"cds_start": 83,
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"cdna_start": 449,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZDHHC3",
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"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "NM_001349381.2",
"protein_id": "NP_001336310.1",
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"aa_start": 28,
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"aa_length": 299,
"cds_start": 83,
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"cdna_start": 411,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_047448260.1",
"protein_id": "XP_047304216.1",
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"cdna_start": 349,
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},
{
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],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZDHHC3",
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"hgvs_c": "c.83C>A",
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"transcript": "XM_047448261.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_047448262.1",
"protein_id": "XP_047304218.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ZDHHC3",
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"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_047448263.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ZDHHC3",
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"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_047448264.1",
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},
{
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"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_017006561.2",
"protein_id": "XP_016862050.1",
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},
{
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],
"exon_rank": 2,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
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"transcript": "XM_047448265.1",
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},
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],
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"intron_rank": null,
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"transcript": "XM_047448266.1",
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},
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],
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"gene_symbol": "ZDHHC3",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_024453558.2",
"protein_id": "XP_024309326.2",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ZDHHC3",
"gene_hgnc_id": 18470,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Pro28His",
"transcript": "XM_024453559.2",
"protein_id": "XP_024309327.2",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}