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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: 12-22471460-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22471460&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 22471460,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385322.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2297T>A",
"hgvs_p": "p.Ile766Asn",
"transcript": "NM_001286176.2",
"protein_id": "NP_001273105.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286176.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2297T>A",
"hgvs_p": "p.Ile766Asn",
"transcript": "ENST00000446597.6",
"protein_id": "ENSP00000388756.1",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286176.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446597.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2303T>A",
"hgvs_p": "p.Ile768Asn",
"transcript": "ENST00000536386.5",
"protein_id": "ENSP00000439392.1",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536386.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2270T>A",
"hgvs_p": "p.Ile757Asn",
"transcript": "ENST00000396028.6",
"protein_id": "ENSP00000379345.2",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396028.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2297T>A",
"hgvs_p": "p.Ile766Asn",
"transcript": "ENST00000333957.8",
"protein_id": "ENSP00000334229.4",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333957.8"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2561T>A",
"hgvs_p": "p.Ile854Asn",
"transcript": "ENST00000960574.1",
"protein_id": "ENSP00000630633.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960574.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2522T>A",
"hgvs_p": "p.Ile841Asn",
"transcript": "ENST00000906362.1",
"protein_id": "ENSP00000576421.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906362.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2522T>A",
"hgvs_p": "p.Ile841Asn",
"transcript": "ENST00000960568.1",
"protein_id": "ENSP00000630627.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960568.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "NM_001385322.1",
"protein_id": "NP_001372251.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385322.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000906354.1",
"protein_id": "ENSP00000576413.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906354.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000960569.1",
"protein_id": "ENSP00000630628.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960569.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000960565.1",
"protein_id": "ENSP00000630624.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960565.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000906359.1",
"protein_id": "ENSP00000576418.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906359.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2336T>A",
"hgvs_p": "p.Ile779Asn",
"transcript": "NM_001385323.1",
"protein_id": "NP_001372252.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385323.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000906352.1",
"protein_id": "ENSP00000576411.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906352.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2336T>A",
"hgvs_p": "p.Ile779Asn",
"transcript": "ENST00000906358.1",
"protein_id": "ENSP00000576417.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906358.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2489T>A",
"hgvs_p": "p.Ile830Asn",
"transcript": "ENST00000960566.1",
"protein_id": "ENSP00000630625.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960566.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2336T>A",
"hgvs_p": "p.Ile779Asn",
"transcript": "ENST00000960573.1",
"protein_id": "ENSP00000630632.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960573.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2336T>A",
"hgvs_p": "p.Ile779Asn",
"transcript": "NM_001286175.2",
"protein_id": "NP_001273104.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286175.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2336T>A",
"hgvs_p": "p.Ile779Asn",
"transcript": "ENST00000545552.5",
"protein_id": "ENSP00000443204.1",
"transcript_support_level": 2,
"aa_start": 779,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545552.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2303T>A",
"hgvs_p": "p.Ile768Asn",
"transcript": "NM_001286173.2",
"protein_id": "NP_001273102.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286173.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2303T>A",
"hgvs_p": "p.Ile768Asn",
"transcript": "ENST00000960572.1",
"protein_id": "ENSP00000630631.1",
"transcript_support_level": null,
"aa_start": 768,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.21,
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{
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"verdict": "Likely_benign",
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"effects": [
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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",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}