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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: 3-23917943-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=23917943&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 23917943,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002948.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "NM_002948.5",
"protein_id": "NP_002939.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002948.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000307839.10",
"protein_id": "ENSP00000309334.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002948.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307839.10"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000354811.5",
"protein_id": "ENSP00000346867.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354811.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000456530.7",
"protein_id": "ENSP00000398788.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 145,
"cds_start": 84,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456530.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "n.120G>T",
"hgvs_p": null,
"transcript": "ENST00000465786.1",
"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": "retained_intron",
"feature": "ENST00000465786.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "NM_001253379.2",
"protein_id": "NP_001240308.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253379.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "NM_001253380.2",
"protein_id": "NP_001240309.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253380.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "NM_001253382.2",
"protein_id": "NP_001240311.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253382.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "NM_001253383.3",
"protein_id": "NP_001240312.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253383.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000413699.7",
"protein_id": "ENSP00000416692.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413699.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000415719.5",
"protein_id": "ENSP00000388529.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415719.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000611050.4",
"protein_id": "ENSP00000483260.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611050.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000644185.1",
"protein_id": "ENSP00000493759.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644185.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000889023.1",
"protein_id": "ENSP00000559082.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889023.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000889024.1",
"protein_id": "ENSP00000559083.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889024.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000889025.1",
"protein_id": "ENSP00000559084.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889025.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913519.1",
"protein_id": "ENSP00000583578.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913519.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913520.1",
"protein_id": "ENSP00000583579.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913520.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913521.1",
"protein_id": "ENSP00000583580.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913521.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913522.1",
"protein_id": "ENSP00000583581.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913522.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913523.1",
"protein_id": "ENSP00000583582.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913523.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL15",
"gene_hgnc_id": 10306,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Trp28Cys",
"transcript": "ENST00000913524.1",
"protein_id": "ENSP00000583583.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 204,
"cds_start": 84,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913524.1"
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}