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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: 5-37182852-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37182852&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37182852,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000651892.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3251,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3251,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Ile",
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 2263,
"cds_start": 2473,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.2344G>A",
"hgvs_p": null,
"transcript": "ENST00000509849.5",
"protein_id": "ENSP00000426337.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3197,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3197,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 5423,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3251,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 5907,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3251,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3250,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3250,
"cds_start": 5329,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 3250,
"cds_start": 5329,
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"cdna_start": 5551,
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"feature": null
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
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"hgvs_p": "p.Val1777Ile",
"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
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"transcript": "XM_047417543.1",
"protein_id": "XP_047273499.1",
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"cdna_start": 5907,
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"feature": null
},
{
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],
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
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},
{
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],
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"gene_symbol": "CPLANE1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
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"mane_select": null,
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},
{
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"strand": false,
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_047417547.1",
"protein_id": "XP_047273503.1",
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},
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
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"gene_symbol": "CPLANE1",
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},
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],
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
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"cds_start": 5329,
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"cdna_length": 11194,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5329G>A",
"hgvs_p": "p.Val1777Ile",
"transcript": "XM_047417550.1",
"protein_id": "XP_047273506.1",
"transcript_support_level": null,
"aa_start": 1777,
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"cdna_start": 5907,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"phylop100way_prediction": "Benign",
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"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|not provided|Joubert syndrome 17",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}