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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: 5-37108348-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37108348&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37108348,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651892.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9524C>T",
"hgvs_p": "p.Thr3175Met",
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": 3175,
"aa_end": null,
"aa_length": 3251,
"cds_start": 9524,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9703,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9524C>T",
"hgvs_p": "p.Thr3175Met",
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": 3175,
"aa_end": null,
"aa_length": 3251,
"cds_start": 9524,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9703,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.6560C>T",
"hgvs_p": "p.Thr2187Met",
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": 2187,
"aa_end": null,
"aa_length": 2263,
"cds_start": 6560,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 6560,
"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": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*866C>T",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*866C>T",
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9362C>T",
"hgvs_p": "p.Thr3121Met",
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": 3121,
"aa_end": null,
"aa_length": 3197,
"cds_start": 9362,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 9541,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9362C>T",
"hgvs_p": "p.Thr3121Met",
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": 3121,
"aa_end": null,
"aa_length": 3197,
"cds_start": 9362,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 9456,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9524C>T",
"hgvs_p": "p.Thr3175Met",
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": 3175,
"aa_end": null,
"aa_length": 3251,
"cds_start": 9524,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 10102,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9524C>T",
"hgvs_p": "p.Thr3175Met",
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": 3175,
"aa_end": null,
"aa_length": 3251,
"cds_start": 9524,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9746,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9521C>T",
"hgvs_p": "p.Thr3174Met",
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": 3174,
"aa_end": null,
"aa_length": 3250,
"cds_start": 9521,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9700,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9521C>T",
"hgvs_p": "p.Thr3174Met",
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": 3174,
"aa_end": null,
"aa_length": 3250,
"cds_start": 9521,
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"cds_length": 9753,
"cdna_start": 9700,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9521C>T",
"hgvs_p": "p.Thr3174Met",
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": 3174,
"aa_end": null,
"aa_length": 3250,
"cds_start": 9521,
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"cdna_start": 9743,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9521C>T",
"hgvs_p": "p.Thr3174Met",
"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
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"aa_start": 3174,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 52,
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"intron_rank": null,
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"gene_symbol": "CPLANE1",
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"hgvs_c": "c.9521C>T",
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"transcript": "XM_047417543.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9521C>T",
"hgvs_p": "p.Thr3174Met",
"transcript": "XM_047417544.1",
"protein_id": "XP_047273500.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9518C>T",
"hgvs_p": "p.Thr3173Met",
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9470C>T",
"hgvs_p": "p.Thr3157Met",
"transcript": "XM_011514087.3",
"protein_id": "XP_011512389.1",
"transcript_support_level": null,
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"aa_length": 3233,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9470C>T",
"hgvs_p": "p.Thr3157Met",
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
"transcript_support_level": null,
"aa_start": 3157,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 52,
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"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9467C>T",
"hgvs_p": "p.Thr3156Met",
"transcript": "XM_047417547.1",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 52,
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"exon_count": 53,
"intron_rank": null,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9467C>T",
"hgvs_p": "p.Thr3156Met",
"transcript": "XM_047417548.1",
"protein_id": "XP_047273504.1",
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},
{
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"strand": false,
"consequences": [
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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.9467C>T",
"hgvs_p": "p.Thr3156Met",
"transcript": "XM_047417549.1",
"protein_id": "XP_047273505.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.9416C>T",
"hgvs_p": "p.Thr3139Met",
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
"transcript_support_level": null,
"aa_start": 3139,
"aa_end": null,
"aa_length": 3215,
"cds_start": 9416,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "Joubert syndrome 17,Orofaciodigital syndrome type 6,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Joubert syndrome 17|not provided|Joubert syndrome 17;Orofaciodigital syndrome type 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}