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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: 5-37153827-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37153827&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37153827,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000651892.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8286C>T",
"hgvs_p": "p.Asp2762Asp",
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8286,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8465,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8286C>T",
"hgvs_p": "p.Asp2762Asp",
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8286,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8465,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5322C>T",
"hgvs_p": "p.Asp1774Asp",
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": 1774,
"aa_end": null,
"aa_length": 2263,
"cds_start": 5322,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 5322,
"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": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.5298C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.528C>T",
"hgvs_p": null,
"transcript": "ENST00000509957.5",
"protein_id": null,
"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": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8124C>T",
"hgvs_p": "p.Asp2708Asp",
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": 2708,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8124,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8303,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8124C>T",
"hgvs_p": "p.Asp2708Asp",
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": 2708,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8124,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8218,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8286C>T",
"hgvs_p": "p.Asp2762Asp",
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8286,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8864,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8286C>T",
"hgvs_p": "p.Asp2762Asp",
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": 2762,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8286,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8508,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8462,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8462,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8505,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8505,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_047417543.1",
"protein_id": "XP_047273499.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8861,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8283C>T",
"hgvs_p": "p.Asp2761Asp",
"transcript": "XM_047417544.1",
"protein_id": "XP_047273500.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8861,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8280C>T",
"hgvs_p": "p.Asp2760Asp",
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
"transcript_support_level": null,
"aa_start": 2760,
"aa_end": null,
"aa_length": 3249,
"cds_start": 8280,
"cds_end": null,
"cds_length": 9750,
"cdna_start": 8459,
"cdna_end": null,
"cdna_length": 11296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8232C>T",
"hgvs_p": "p.Asp2744Asp",
"transcript": "XM_011514087.3",
"protein_id": "XP_011512389.1",
"transcript_support_level": null,
"aa_start": 2744,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8232,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 8411,
"cdna_end": null,
"cdna_length": 11248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8232C>T",
"hgvs_p": "p.Asp2744Asp",
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
"transcript_support_level": null,
"aa_start": 2744,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8232,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 8454,
"cdna_end": null,
"cdna_length": 11291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8229C>T",
"hgvs_p": "p.Asp2743Asp",
"transcript": "XM_047417547.1",
"protein_id": "XP_047273503.1",
"transcript_support_level": null,
"aa_start": 2743,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8229,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8408,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8229C>T",
"hgvs_p": "p.Asp2743Asp",
"transcript": "XM_047417548.1",
"protein_id": "XP_047273504.1",
"transcript_support_level": null,
"aa_start": 2743,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8229,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8807,
"cdna_end": null,
"cdna_length": 11644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8229C>T",
"hgvs_p": "p.Asp2743Asp",
"transcript": "XM_047417549.1",
"protein_id": "XP_047273505.1",
"transcript_support_level": null,
"aa_start": 2743,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8229,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8408,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8178C>T",
"hgvs_p": "p.Asp2726Asp",
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8178,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 8357,
"cdna_end": null,
"cdna_length": 11194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
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"phylop100way_prediction": "Benign",
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{
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"BP7",
"BS1",
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "not specified|Joubert syndrome 17|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}