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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: 7-100308985-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100308985&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100308985,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004351.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE3",
"gene_hgnc_id": 35462,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "NM_001004351.5",
"protein_id": "NP_001004351.3",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 549,
"cds_start": 118,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "ENST00000332397.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004351.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE3",
"gene_hgnc_id": 35462,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "ENST00000332397.6",
"protein_id": "ENSP00000329565.6",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 549,
"cds_start": 118,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "NM_001004351.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332397.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE3",
"gene_hgnc_id": 35462,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "XM_047420404.1",
"protein_id": "XP_047276360.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 549,
"cds_start": 118,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420404.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.658-8262C>A",
"hgvs_p": null,
"transcript": "ENST00000685541.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685541.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.751-8262C>A",
"hgvs_p": null,
"transcript": "ENST00000685724.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685724.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.668-8262C>A",
"hgvs_p": null,
"transcript": "ENST00000692351.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692351.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.791-8262C>A",
"hgvs_p": null,
"transcript": "ENST00000701204.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000701204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.634-8262C>A",
"hgvs_p": null,
"transcript": "ENST00000702062.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702062.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.705-3030C>A",
"hgvs_p": null,
"transcript": "ENST00000702720.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293698",
"gene_hgnc_id": null,
"hgvs_c": "n.620+19851C>A",
"hgvs_p": null,
"transcript": "ENST00000718499.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.615+19851C>A",
"hgvs_p": null,
"transcript": "ENST00000718500.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 820,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000718500.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "ENSG00000291178",
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"hgvs_c": "n.1083+16706C>A",
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"transcript": "ENST00000718501.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.613+19851C>A",
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"transcript": "ENST00000718502.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000718502.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ENSG00000293698",
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"hgvs_c": "n.741+16706C>A",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ENSG00000293698",
"gene_hgnc_id": null,
"hgvs_c": "n.736+16706C>A",
"hgvs_p": null,
"transcript": "ENST00000842202.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000842202.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ENSG00000293698",
"gene_hgnc_id": null,
"hgvs_c": "n.222+16706C>A",
"hgvs_p": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.609+19851C>A",
"hgvs_p": null,
"transcript": "ENST00000843375.1",
"protein_id": null,
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"mane_select": null,
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"feature": "ENST00000843375.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.745+16706C>A",
"hgvs_p": null,
"transcript": "ENST00000843376.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000843376.1"
},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "ENSG00000291178",
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"hgvs_c": "n.643+19851C>A",
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},
{
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],
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"gene_symbol": "ENSG00000291178",
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"feature": "ENST00000843378.1"
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ENSG00000291178",
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"biotype": "pseudogene",
"feature": "ENST00000843379.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.734+16706C>A",
"hgvs_p": null,
"transcript": "ENST00000843380.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 1041,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000843380.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291178",
"gene_hgnc_id": null,
"hgvs_c": "n.457+21197C>A",
"hgvs_p": null,
"transcript": "ENST00000843381.1",
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{
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{
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}