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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: 17-28715098-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28715098&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28715098,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001144943.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "NM_031934.6",
"protein_id": "NP_114140.4",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395245.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031934.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "ENST00000395245.9",
"protein_id": "ENSP00000378666.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031934.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395245.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Glu238Lys",
"transcript": "ENST00000453384.7",
"protein_id": "ENSP00000413156.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 268,
"cds_start": 712,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453384.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "ENST00000301043.10",
"protein_id": "ENSP00000301043.6",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301043.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000625712.2",
"protein_id": "ENSP00000487160.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 211,
"cds_start": 541,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625712.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.*362G>A",
"hgvs_p": null,
"transcript": "ENST00000395243.7",
"protein_id": "ENSP00000378664.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395243.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"transcript": "NM_001144943.1",
"protein_id": "NP_001138415.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 316,
"cds_start": 709,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144943.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Glu229Lys",
"transcript": "NM_001142624.2",
"protein_id": "NP_001136096.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 308,
"cds_start": 685,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142624.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "ENST00000924458.1",
"protein_id": "ENSP00000594517.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 273,
"cds_start": 538,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924458.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "ENST00000924460.1",
"protein_id": "ENSP00000594519.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 273,
"cds_start": 538,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924460.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Glu238Lys",
"transcript": "NM_001142625.2",
"protein_id": "NP_001136097.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 268,
"cds_start": 712,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142625.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000959030.1",
"protein_id": "ENSP00000629089.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 265,
"cds_start": 514,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959030.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "ENST00000959034.1",
"protein_id": "ENSP00000629093.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 265,
"cds_start": 514,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959034.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000892095.1",
"protein_id": "ENSP00000562154.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892095.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000892096.1",
"protein_id": "ENSP00000562155.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892096.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000924444.1",
"protein_id": "ENSP00000594503.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924444.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000924446.1",
"protein_id": "ENSP00000594505.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924446.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000924453.1",
"protein_id": "ENSP00000594512.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924453.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000924461.1",
"protein_id": "ENSP00000594520.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924461.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "NM_001256277.2",
"protein_id": "NP_001243206.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256277.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "NM_001256278.1",
"protein_id": "NP_001243207.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256278.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB34",
"gene_hgnc_id": 16519,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "ENST00000436730.7",
"protein_id": "ENSP00000404180.3",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 259,
"cds_start": 538,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436730.7"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}