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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: X-129841802-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=129841802&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 129841802,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_016032.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "NM_016032.4",
"protein_id": "NP_057116.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": "ENST00000357166.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016032.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000357166.11",
"protein_id": "ENSP00000349689.6",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": "NM_016032.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357166.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000371064.7",
"protein_id": "ENSP00000360103.3",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371064.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860167.1",
"protein_id": "ENSP00000530226.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 394,
"cds_start": 144,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860167.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939989.1",
"protein_id": "ENSP00000610048.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 394,
"cds_start": 144,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939989.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "NM_001008222.3",
"protein_id": "NP_001008223.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008222.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860168.1",
"protein_id": "ENSP00000530227.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860168.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860169.1",
"protein_id": "ENSP00000530228.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860169.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860172.1",
"protein_id": "ENSP00000530231.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860172.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860173.1",
"protein_id": "ENSP00000530232.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860173.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939982.1",
"protein_id": "ENSP00000610041.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939982.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939984.1",
"protein_id": "ENSP00000610043.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939984.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939985.1",
"protein_id": "ENSP00000610044.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939985.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939986.1",
"protein_id": "ENSP00000610045.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 364,
"cds_start": 144,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939986.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860170.1",
"protein_id": "ENSP00000530229.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 363,
"cds_start": 144,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860170.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939988.1",
"protein_id": "ENSP00000610047.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 363,
"cds_start": 144,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939988.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000966618.1",
"protein_id": "ENSP00000636677.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 363,
"cds_start": 144,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966618.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000966617.1",
"protein_id": "ENSP00000636676.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 359,
"cds_start": 144,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966617.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860166.1",
"protein_id": "ENSP00000530225.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 335,
"cds_start": 144,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860166.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000860171.1",
"protein_id": "ENSP00000530230.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 335,
"cds_start": 144,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860171.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939983.1",
"protein_id": "ENSP00000610042.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 335,
"cds_start": 144,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939983.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000939987.1",
"protein_id": "ENSP00000610046.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 335,
"cds_start": 144,
"cds_end": null,
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"cdna_start": 426,
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{
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{
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{
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},
{
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],
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],
"gene_symbol": "ZDHHC9",
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"dbsnp": "rs145877196",
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"hom_count_reference_population": 1,
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"gnomad_genomes_ac": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.032999999821186066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.117,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
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}
],
"clinvar_disease": "Syndromic X-linked intellectual disability Raymond type",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Syndromic X-linked intellectual disability Raymond type",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}